Product Details

SNP ID

rs111318210

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:87402288 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGGCCTTCTCTGGCTTTGTCCAG[G/T]GCTTCTTGGACAACCTATTGATAAA

Phenotype

MIM: 171060 MIM: 606090

Polymorphism

G/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	3606	Silent Mutation	GCA,GCC	A1216A	NP_000434.1
NM_018849.2	3606	Silent Mutation	GCA,GCC	A1223A	NP_061337.1
NM_018850.2	3606	Silent Mutation	GCA,GCC	A1169A	NP_061338.1
XM_011516308.2	3606	Silent Mutation	GCA,GCC	A1223A	XP_011514610.2
XM_011516309.2	3606	Silent Mutation	GCA,GCC	A1216A	XP_011514611.2
XM_011516310.2	3606	Silent Mutation	GCA,GCC	A1188A	XP_011514612.2
XM_011516311.2	3606	Silent Mutation	GCA,GCC	A1180A	XP_011514613.2
XM_011516312.2	3606	Silent Mutation	GCA,GCC	A1176A	XP_011514614.2
XM_011516313.2	3606	Silent Mutation	GCA,GCC	A1169A	XP_011514615.1
XM_011516315.2	3606	Silent Mutation	GCA,GCC	A1003A	XP_011514617.2
XM_017012323.1	3606	Silent Mutation	GCA,GCC	A1223A	XP_016867812.1

Gene

CROT

Gene Name

carnitine O-octanoyltransferase

There are no transcripts associated with this gene.

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