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IKMB: Blood Group DB

Colton > AQP1


Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.112C>T p.Pro38Ser Exon 1 chr7:30951636 chr7:30912021
c.113C>T p.Pro38Leu Exon 1 chr7:30951637 chr7:30912022 rs104894004
c.134C>T p.Ala45Val Exon 1 chr7:30951658 chr7:30912043 rs28362692
c.140A>G p.Gln47Arg Exon 1 chr7:30951664 chr7:30912049 rs377506522
c.232delG p.Ala78Leufs*42 Exon 1 chr7:30951756 chr7:30912141
c.308_309insT p.Ala105Glyfs*24 Exon 1 chr7:30951832 chr7:30912217
c.576C>A p.Asn192Lys Exon 3 chr7:30962205 chr7:30922590 rs755480059
c.601delG p.Val201Ter Exon 3 chr7:30962230 chr7:30922615 rs199474670

aquaporin 1
Chromosome:chr7
Strand:+
Genomic ref.:NG_007475.1
Transcript ref.:NM_198098.2
Protein ref.: NP_932766.1
Entrez GeneID:358
Uniprot ID:P29972
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
4 30951414 30965131 30951524 30963244
hg38:
ExonsStartEndCDS StartCDS End
4 30911852 30925516 30911909 30923629
Exon hg19 start hg19 end hg38 start hg38 end
1 30951467 30951908 30911852 30912293
2 30961680 30961845 30922065 30922230
3 30962178 30962259 30922563 30922644
4 30963064 30965131 30923449 30925516