Product Details

SNP ID
rs147666778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:151028544 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTGCATTTATTTCGGGTCGGGA[C/T]TCGGGGTGGCCCATTCCCAGGCAGG
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_001282291.1 123 Missense Mutation ACT,ATT T10I NP_001269220.1
NM_001282292.1 123 Missense Mutation ACT,ATT T10I NP_001269221.1
NM_001282293.1 123 Silent Mutation GAC,GAT D26D NP_001269222.1
NM_007188.4 123 Missense Mutation ACT,ATT T10I NP_009119.2
Gene
ATG9B
Gene Name
autophagy related 9B
There are no transcripts associated with this gene.

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