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IKMB: Blood Group DB

LAN > ABCB6


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.1A>C Exon 1 chr2:220083395 chr2:219218673 rs770340675
c.20A>G p.Tyr7Cys Exon 1 chr2:220083376 chr2:219218654 rs1401023454
c.55A>T Exon 1 chr2:220083341 chr2:219218619
c.85_87delTTC p.Phe29del Exon 1 chr2:220083309 chr2:219218587 rs748337351
c.197_198insG p.Ala66Glyfs* Exon 1 chr2:220083198 chr2:219218476
c.295_296insG Exon 1 chr2:220083100 chr2:219218378
c.296_301insG p.Ala101Glyfs*61 Exon 2 chr2:220083095 chr2:219218373
c.317A>G p.Tyr106Cys Exon 1 chr2:220083079 chr2:219218357 rs377474593
c.376delG p.Val126fs* Exon 1 chr2:220083020 chr2:219218298 rs377591749
c.403C>A p.Arg135Ser Exon 1 chr2:220082993 chr2:219218271 rs202232534
c.459delC p.Leu154Serfs*97 Exon 1 chr2:220082937 chr2:219218215 rs755723161
c.574C>T p.Arg192Trp Exon 2 chr2:220082505 chr2:219217783 rs149202834
c.717G>A p.Gln239Ter Exon 3 chr2:220081525 chr2:219216803 rs148458820
c.718C>T p.Arg240Ter Exon 3 chr2:220081524 chr2:219216802 rs766607263
c.826C>T p.Arg276Trp Exon 3 chr2:220081416 chr2:219216694 rs57467915
c.827G>A p.Arg276Glu Exon 3 chr2:220081415 chr2:219216693 rs200125320
c.IVS3-2A>G Intron 3 chr2:220081189 chr2:219216467
c.869-2A>G Intron None chr2:220081189 chr2:219216467
c.881_884delCTGA p.Thr294Argfs*31 Exon 4 chr2:220081172 chr2:219216450
c.953_956delGTGG p.Gly318fsTer Exon 4 chr2:220081100 chr2:219216378 rs755885095
c.971-1G>A Intron 4 chr2:220080903 chr2:219216181 rs1450661565
c.1028G>A p.Arg343Gln Exon 5 chr2:220080845 chr2:219216123 rs60322991
c.1118_1124delCGGATCG p.Ala373Glyfs*47 Exon 6 chr2:220080749 chr2:219216027
c.1199_1210delTTGGCATCATCT p.Ile400_Gly401_Ile402_Ile403_Tyr404delinsAsn Exon 6 chr2:220079749 chr2:219215027
c.1236G>A p.Trp412Ter Exon 6 chr2:220079723 chr2:219215001 rs772387819
c.1533_1543dupCGGCTCCCTGC p.Leu515fs* Exon 9 chr2:220078583 chr2:219213861 rs772078524
c.1558_1559insT p.Val520fs* Exon 9 chr2:220078567 chr2:219213845
c.1617delG p.Gly539Hisfs*15 Exon 10 chr2:220078350 chr2:219213628 rs769584110
c.1656-1G>A Intron 9 chr2:220078225 chr2:219213503
c.1690_1691delAT p.Met564fs* Exon 11 chr2:220078189 chr2:219213467 rs387906908
c.1709_1710delAG p.Glu570fs* Exon 11 chr2:220078170 chr2:219213448 rs867157424
c.1762G>A p.Gly588Ser Exon 12 chr2:220078006 chr2:219213284 rs145526996
c.1825G>A p.Val609Met Exon 13 chr2:220077768 chr2:219213046 rs374541848
c.1867delinsAACAGGTGA p.Gly623fs* Exon 14 chr2:220077210 chr2:219212488 rs1033744512
c.1912C>T p.Arg638Cys Exon 14 chr2:220077165 chr2:219212443 rs761968111
c.1942C>T p.Arg648Ter Exon 14 chr2:220077135 chr2:219212413 rs376664522
c.1985_1986delTC p.Leu662fs* Exon 15 chr2:220075813 chr2:219211091 rs387906909
c.2155C>T p.Glu719Ter Exon 16 chr2:220075534 chr2:219210812
c.2206G>C p.Ala736Pro Exon 16 chr2:220075483 chr2:219210761 rs1456564537
c.2216G>A p.Arg739His Exon 16 chr2:220075473 chr2:219210751 rs192931087
c.2256+1G>A Intron None chr2:220075432 chr2:219210710
c.IVS16+1G>A Intron 16 chr2:220075432 chr2:219210710
c.2256+2T>G Intron 16 chr2:220075431 chr2:219210709
c.2351+1G>A Intron 17 chr2:220075102 chr2:219210380 rs150574070
c.2383_2385delCTC p.Leu795del Exon 18 chr2:220074987 chr2:219210265

ATP binding cassette subfamily B member 6
Chromosome:chr2
Strand:-
Genomic ref.:NG_032110.1
Transcript ref.:NM_005689.2
Protein ref.: NP_005680.1
Entrez GeneID:10058
Uniprot ID:Q9NP58
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
19 220074487 220083712 220074659 220083395
hg38:
ExonsStartEndCDS StartCDS End
19 219209771 219218958 219209937 219218673
Exon hg19 start hg19 end hg38 start hg38 end
1 220082846 220083680 219218124 219218958
10 220078311 220078388 219213589 219213666
11 220078160 220078224 219213438 219213502
12 220077962 220078048 219213240 219213326
13 220077729 220077787 219213007 219213065
14 220077108 220077213 219212386 219212491
15 220075655 220075830 219210933 219211108
16 220075432 220075545 219210710 219210823
17 220075102 220075197 219210380 219210475
18 220074951 220075020 219210229 219210298
19 220074493 220074768 219209771 219210046
2 220082391 220082529 219217669 219217807
3 220081373 220081554 219216651 219216832
4 220081085 220081187 219216363 219216465
5 220080718 220080902 219215996 219216180
6 220079682 220079804 219214960 219215082
7 220079110 220079220 219214388 219214498
8 220078842 220078908 219214120 219214186
9 220078547 220078673 219213825 219213951