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IKMB: Blood Group DB

EMM > PIGG

Genetic changes
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nt change aa change Location hg19 hg38 rsNum
c.361-51_383delinsGACTT Intron 2 to Exon 3 chr4:499456 chr4:505667
c.640C>T p.His214Tyr Exon 4 chr4:501263 chr4:507474
c.901+1delG Intron 5 chr4:502760 chr4:508971 rs782318668
c.1640G>A p.Trp547* Exon 9 chr4:517273 chr4:523484 rs547951371
c.2624_2625delTA p.Leu875* Exon 12 chr4:527659 chr4:533870 rs771819481

phosphatidylinositol glycan anchor biosynthesis class G
Chromosome:chr4
Strand:+
Genomic ref.:NG_051621.1
Transcript ref.:NM_001127178.3
Protein ref.: NP_001120650.1 NP_001275980.1 NP_001275981.1 NP_001275984.1 NP_001275986.1 NP_060203.3
Entrez GeneID:54872
Uniprot ID:Q5H8A4
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
13 None None 493124 533158
hg38:
ExonsStartEndCDS StartCDS End
13 499209 540200 499335 539369
Exon hg19 start hg19 end hg38 start hg38 end
1 492998 493278 499209 499489
10 520827 521019 527038 527230
11 524224 524534 530435 530745
12 527606 527770 533817 533981
13 532941 533989 539152 540200
2 494184 494390 500395 500601
3 499506 499716 505717 505927
4 501193 501382 507404 507593
5 502617 502759 508828 508970
6 509761 509974 515972 516185
7 514844 515062 521055 521273
8 515448 515730 521659 521941
9 517247 517702 523458 523913