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IKMB: Blood Group DB

Kidd > SLC14A1

Genetic changes
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nt change aa change Location hg19 hg38 rsNum
c.1_341del Exon 3-4 chr18:43310286 chr18:45730321
c.27_50delAGTGGACAGCCCCACTATGGTTAG Exon 3 chr18:43310312 chr18:45730347
c.27_50del p.Val10_Arg17del Exon 3 chr18:43310312 chr18:45730347
c.28G>A p.Val10Met Exon 3 chr18:43310313 chr18:45730348 rs113578396
c.118G>A p.Gly40Ser Exon 3 chr18:43310403 chr18:45730438 rs145283450
c.130G>A p.Glu44Lys Exon 3 chr18:43310415 chr18:45730450 rs2298720
c.134T>C p.Leu45Pro Exon 3 chr18:43310419 chr18:45730454 rs537028614
c.157_166del p.Pro53Serfs77 Exon 4 chr18:43310985 chr18:45731020
c.190C>T p.Arg64Trp Exon 4 chr18:43311018 chr18:45731053 rs552191196
c.191G>A p.Arg64Gln Exon 4 chr18:43311019 chr18:45731054 rs114362217
c.194G>A p.Gly65Asp Exon 4 chr18:43311022 chr18:45731057 rs778150490
c.202C>T p.Gln68Ter Exon 4 chr18:43311030 chr18:45731065 rs142529927
c.220A>G p.Asn74Asp Exon 4 chr18:43311048 chr18:45731083
c.222C>A p.Asn74Lys Exon 4 chr18:43311050 chr18:45731085 rs749037771
c.226G>A p.Val76Ile Exon 4 chr18:43311054 chr18:45731089 rs113029149
c.277G>A p.Ala93Thr Exon 4 chr18:43311105 chr18:45731140
c.303G>A p.Val101Val Exon 4 chr18:43311131 chr18:45731166 rs28994287
c.327delG p.Leu109Phefs*8 Exon 4 chr18:43311155 chr18:45731190
c.342-1G>A p.Arg114Ter Intron 4 chr18:43314238 chr18:45734273 rs78937798
c.342-1G>C Intron 4 chr18:43314238 chr18:45734273 rs78937798
c.350T>C p.Ile117Thr Exon 5 chr18:43314247 chr18:45734282 rs374022751
c.432G>A p.Gly298Glu Exon 5 chr18:43314329 chr18:45734364
c.437T>C p.Leu146Pro Exon 5 chr18:43314334 chr18:45734369
c.486T>A p.Ser162Arg Exon 6 chr18:43316436 chr18:45736471 rs753809770
c.499A>G p.Met167Val Exon 6 chr18:43316449 chr18:45736484 rs2298719
c.511T>C p.Trp171Arg Exon 6 chr18:43316461 chr18:45736496 rs9948825
c.512G>A p.Trp171Ter Exon 6 chr18:43316462 chr18:45736497
c.516_530del p.Val175_Pro179 Exon 6 chr18:43316466 chr18:45736501 rs772726215
c.536C>G p.Pro179Arg Exon 6 chr18:43316486 chr18:45736521 rs201612170
c.548C>T p.Ala183Val Exon 6 chr18:43316498 chr18:45736533 rs367901541
c.561C>A p.Tyr187Ter Exon 6 chr18:43316511 chr18:45736546 rs778172038
c.582C>G p.Tyr194Ter Exon 6 chr18:43316532 chr18:45736567 rs34756616
c.588A>G p.Pro196Pro Exon 6 chr18:43316538 chr18:45736573 rs2298718
c.647_648delAC p.Asp216Alafs*21 Exon 6 chr18:43316597 chr18:45736632 rs1223735153
c.663+1G>T p.Leu222Valfs*46 Intron 6 chr18:43316614 chr18:45736649 rs77744921
c.718T>A p.Trp240Arg Exon 7 chr18:43319182 chr18:45739217 rs760579000
c.719G>A p.Trp240Ter Exon 7 chr18:43319183 chr18:45739218
c.723delA p.Gly243Alafs*20 Exon 7 chr18:43319187 chr18:45739222 rs759505281
c.742G>A p.Ala248Thr Exon 7 chr18:43319206 chr18:45739241 rs763095261
c.757_759delTCC p.Ser253del Exon 7 chr18:43319221 chr18:45739256
c.810G>A p.Ala270Ala Exon 7 chr18:43319274 chr18:45739309 rs17675299
c.811+5G>A p.Leu272Glufs*29 Intron 7 chr18:43319280 chr18:45739315 rs1414947682
c.814C>T p.Leu272Phe Exon 8 chr18:43319495 chr18:45739530 rs757895930
c.838A>G p.Asp280Asn Exon 8 chr18:43319519 chr18:45739554 rs1058396
c.856delT p.Trp286Glyfs*67 Exon 9 chr18:43319537 chr18:45739572 rs1444093504
c.866A>G p.Asn289Ser Exon 8 chr18:43319547 chr18:45739582
c.871T>C p.Ser291Pro Exon 8 chr18:43319552 chr18:45739587 rs78242949
c.893G>A p.Gly298Glu Exon 9 chr18:43319574 chr18:45739609
c.896G>A p.Gly299Glu Exon 8 chr18:43319577 chr18:45739612 rs538368217
c.956C>T p.Thr319Met Exon 9 chr18:43328350 chr18:45748385 rs565898944
c.998T>A p.VAl333Asp Exon 10 chr18:43329744 chr18:45749779 rs774982134
c.1038delG p.Leu347Tyrfs*6 Exon 10 chr18:43329784 chr18:45749819 rs746265611
c.1095T>C p.Ser365Ser Exon 10 chr18:43329841 chr18:45749876 rs28898897
c.1068insA p.Asp356Lysfs*11 Exon 10 chr18:None chr18:None
c.160insC p.Val54Argfs*7 Exon 4 chr18:None chr18:None rs377124382

solute carrier family 14 member 1
Chromosome:chr18
Strand:+
Genomic ref.:NG_011775.4
Transcript ref.:NM_015865.7
Protein ref.: NP_001122060.3 NP_001139508.2 NP_001139509.1 NP_056949.4
Entrez GeneID:6563
Uniprot ID:Q13336
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
10 43304091 43332485 43310285 43329916
hg38:
ExonsStartEndCDS StartCDS End
10 45724180 45752520 45730320 45749951
Exon hg19 start hg19 end hg38 start hg38 end
1 43304145 43304238 45724180 45724273
10 43329742 43332485 45749777 45752520
2 43304914 43304978 45724949 45725013
3 43310264 43310436 45730299 45730471
4 43310979 43311169 45731014 45731204
5 43314238 43314367 45734273 45734402
6 43316420 43316613 45736455 45736648
7 43319127 43319275 45739162 45739310
8 43319492 43319627 45739527 45739662
9 43328340 43328390 45748375 45748425