Product Details

SNP ID

rs31651

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:87399971 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTGTACAGCTATAATCATCAGGCA[A/G]CCAGGACTGAGGCTGGAAAGTTTAA

Phenotype

MIM: 171060 MIM: 606090

Polymorphism

A/G, Transition 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	5795	Intron			NP_000434.1
NM_018849.2	5795	Intron			NP_061337.1
NM_018850.2	5795	Intron			NP_061338.1
XM_011516308.2	5795	UTR 3			XP_011514610.2
XM_011516309.2	5795	UTR 3			XP_011514611.2
XM_011516310.2	5795	UTR 3			XP_011514612.2
XM_011516311.2	5795	UTR 3			XP_011514613.2
XM_011516312.2	5795	UTR 3			XP_011514614.2
XM_011516313.2	5795	Intron			XP_011514615.1
XM_011516315.2	5795	UTR 3			XP_011514617.2
XM_017012323.1	5795	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	5795	Intron			NP_001137407.1
NM_001243745.1	5795	Intron			NP_001230674.1
NM_021151.3	5795	Intron			NP_066974.2
XM_011516337.2	5795	Intron			XP_011514639.1
XM_017012370.1	5795	Intron			XP_016867859.1

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