Product Details

SNP ID
rs139216778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:151033813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCTGTGTGAGGCAGAAGAGGCC[C/T]CTCCTGCCAGCTCCACACCCCATGT
Phenotype
MIM: 605464 MIM: 612205
Polymorphism
C/T, Transition 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_001282291.1 398 Missense Mutation CCT,TCT P119S NP_001269220.1
NM_001282292.1 398 Missense Mutation CCT,TCT P102S NP_001269221.1
NM_001282293.1 398 Intron NP_001269222.1
NM_007188.4 398 Missense Mutation CCT,TCT P102S NP_009119.2
Gene
ATG9B
Gene Name
autophagy related 9B
There are no transcripts associated with this gene.

View Full Product Details