Product Details

SNP ID
rs137860687
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:87399521 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAACTCTTTTGAACAAACAGACAA[A/T]TTAGCTAGTAGTATGGAGATGTATA
Phenotype
MIM: 171060 MIM: 606090
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ABCB4 PubMed Links

Gene Details

Gene
ABCB4
Gene Name
ATP binding cassette subfamily B member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000443.3 3035 Intron NP_000434.1
NM_018849.2 3035 Intron NP_061337.1
NM_018850.2 3035 Intron NP_061338.1
XM_011516308.2 3035 UTR 3 XP_011514610.2
XM_011516309.2 3035 UTR 3 XP_011514611.2
XM_011516310.2 3035 UTR 3 XP_011514612.2
XM_011516311.2 3035 UTR 3 XP_011514613.2
XM_011516312.2 3035 UTR 3 XP_011514614.2
XM_011516313.2 3035 Intron XP_011514615.1
XM_011516315.2 3035 UTR 3 XP_011514617.2
XM_017012323.1 3035 UTR 3 XP_016867812.1
Gene
CROT
Gene Name
carnitine O-octanoyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143935.1 3035 UTR 3 NP_001137407.1
NM_001243745.1 3035 Intron NP_001230674.1
NM_021151.3 3035 UTR 3 NP_066974.2
XM_011516337.2 3035 Intron XP_011514639.1
XM_017012370.1 3035 UTR 3 XP_016867859.1

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