Product Details

SNP ID
rs11543269
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:57646765 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTTCCACAGAATAAAAAGCCATA[C/T]ATTCTTTTATCATACCTAGAAAATG
Phenotype
MIM: 602397
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP8B1 PubMed Links

Gene Details

Gene
ATP8B1
Gene Name
ATPase phospholipid transporting 8B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005603.4 5523 UTR 3 NP_005594.1
XM_006722481.3 5523 UTR 3 XP_006722544.1
XM_011526022.2 5523 UTR 3 XP_011524324.1
XM_011526023.2 5523 UTR 3 XP_011524325.1
Gene
LOC100505549
Gene Name
uncharacterized LOC100505549
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242804.1 5523 Intron NP_001229733.1

View Full Product Details