Product Details

SNP ID

rs141594991

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151033915 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCTGGTCCTGGGGGTAGCCGTC[A/G]TGGTGAGGCTTTCCCCACTTCTCCA

Phenotype

MIM: 605464 MIM: 612205

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ABCB8 PubMed Links

Additional Information

For this assay, SNP(s) [rs4148844] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ABCB8

Gene Name

ATP binding cassette subfamily B member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282291.1	500	Missense Mutation	ATG,GTG	M153V	NP_001269220.1
NM_001282292.1	500	Missense Mutation	ATG,GTG	M136V	NP_001269221.1
NM_001282293.1	500	Intron			NP_001269222.1
NM_007188.4	500	Missense Mutation	ATG,GTG	M136V	NP_009119.2

Gene

ATG9B

Gene Name

autophagy related 9B

There are no transcripts associated with this gene.

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