Product Details

SNP ID

rs200944951

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:87402096 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTAAAATATACTGTAGCAAAAGT[C/T]CATAAGTTCTGTGTCCCAGCCTGGA

Phenotype

MIM: 171060 MIM: 606090

Polymorphism

C/T, 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
XM_011516308.2		Intron			XP_011514610.2
XM_011516309.2		Intron			XP_011514611.2
XM_011516310.2		Intron			XP_011514612.2
XM_011516311.2		Intron			XP_011514613.2
XM_011516312.2		Intron			XP_011514614.2
XM_011516315.2		Intron			XP_011514617.2
XM_017012323.1		Intron			XP_016867812.1

Gene

CROT

Gene Name

carnitine O-octanoyltransferase

There are no transcripts associated with this gene.

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