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SNP ID

rs200121425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151033840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGCCAGCTCCACACCCCATGTC[G/T]TGGGGTCTCGCTTTAACTGGAAGCT

Phenotype

MIM: 605464 MIM: 612205

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ABCB8 PubMed Links

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	425	Missense Mutation	GTG,TTG	V128L	NP_001269220.1
NM_001282292.1	425	Missense Mutation	GTG,TTG	V111L	NP_001269221.1
NM_001282293.1	425	Intron			NP_001269222.1
NM_007188.4	425	Missense Mutation	GTG,TTG	V111L	NP_009119.2

Gene

ATG9B

Gene Name

autophagy related 9B

There are no transcripts associated with this gene.

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