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IKMB: Blood Group DB

Vel > SMIM1

Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.-75-335A>G Intron 2 chr1:3691528 chr1:3774964 rs1175550
c.64_80delAGCCTAGGGGCTGTGTC p.Ser22Glnfs*? Exon 3 chr1:3692001 chr1:3775437 rs566629828
c.122G>A p.Arg41Lys Exon 4 chr1:3692370 chr1:3775806
c.152T>A p.Met51Lys Exon 4 chr1:3692400 chr1:3775836 rs1182690110
c.152T>G p.Met51Arg Exon 4 chr1:3692400 chr1:3775836 rs1182690110
c.161T>C p.Leu54Pro Exon 4 chr1:3692409 chr1:3775845

small integral membrane protein 1
Chromosome:chr1
Strand:+
Genomic ref.:NG_033869.1
Transcript ref.:NM_001163724.3
Protein ref.: NP_001157196.1 NP_001275512.1
Entrez GeneID:388588
Uniprot ID:B2RUZ4
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
4 3689350 3692546 3691937 3692485
hg38:
ExonsStartEndCDS StartCDS End
4 3772748 3775956 3775373 3775921
Exon hg19 start hg19 end hg38 start hg38 end
1 3689312 3689405 3772748 3772841
2 3689626 3689745 3773062 3773181
3 3691862 3692047 3775298 3775483
4 3692358 3692520 3775794 3775956