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SNP ID

rs140946542

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:87402240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCTGCATTCTGGATGGTGGACAG[A/G]CGGTGAGCAATCACAATGCAGGTGC

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	3654	Silent Mutation	CGC,CGT	R1232R	NP_000434.1
NM_018849.2	3654	Silent Mutation	CGC,CGT	R1239R	NP_061337.1
NM_018850.2	3654	Silent Mutation	CGC,CGT	R1185R	NP_061338.1
XM_011516308.2	3654	Silent Mutation	CGC,CGT	R1239R	XP_011514610.2
XM_011516309.2	3654	Silent Mutation	CGC,CGT	R1232R	XP_011514611.2
XM_011516310.2	3654	Silent Mutation	CGC,CGT	R1204R	XP_011514612.2
XM_011516311.2	3654	Silent Mutation	CGC,CGT	R1196R	XP_011514613.2
XM_011516312.2	3654	Silent Mutation	CGC,CGT	R1192R	XP_011514614.2
XM_011516313.2	3654	Silent Mutation	CGC,CGT	R1185R	XP_011514615.1
XM_011516315.2	3654	Silent Mutation	CGC,CGT	R1019R	XP_011514617.2
XM_017012323.1	3654	Silent Mutation	CGC,CGT	R1239R	XP_016867812.1

Gene

CROT

Gene Name

carnitine O-octanoyltransferase

There are no transcripts associated with this gene.

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