Product Details

SNP ID

rs200404041

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:87402294 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTCTGGCTTTGTCCAGGGCTTC[C/T]TGGACAACCTATTGATAAATCAGAC

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
NM_000443.3	3600	Silent Mutation	CAA,CAG	Q1214Q	NP_000434.1
NM_018849.2	3600	Silent Mutation	CAA,CAG	Q1221Q	NP_061337.1
NM_018850.2	3600	Silent Mutation	CAA,CAG	Q1167Q	NP_061338.1
XM_011516308.2	3600	Silent Mutation	CAA,CAG	Q1221Q	XP_011514610.2
XM_011516309.2	3600	Silent Mutation	CAA,CAG	Q1214Q	XP_011514611.2
XM_011516310.2	3600	Silent Mutation	CAA,CAG	Q1186Q	XP_011514612.2
XM_011516311.2	3600	Silent Mutation	CAA,CAG	Q1178Q	XP_011514613.2
XM_011516312.2	3600	Silent Mutation	CAA,CAG	Q1174Q	XP_011514614.2
XM_011516313.2	3600	Silent Mutation	CAA,CAG	Q1167Q	XP_011514615.1
XM_011516315.2	3600	Silent Mutation	CAA,CAG	Q1001Q	XP_011514617.2
XM_017012323.1	3600	Silent Mutation	CAA,CAG	Q1221Q	XP_016867812.1

Gene

CROT

Gene Name

carnitine O-octanoyltransferase

There are no transcripts associated with this gene.

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