Product Details

SNP ID
rs149018700
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:69152083 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGTGGGAAAAGCTTCAAAATCT[C/T]TGTGTGGAGAGCTTCCACCTGGGTA
Phenotype
MIM: 612508 MIM: 612504
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCA10 PubMed Links

Gene Details

Gene
ABCA10
Gene Name
ATP binding cassette subfamily A member 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080282.3 5236 Missense Mutation AAG,GAG K1453E NP_525021.3
Gene
ABCA6
Gene Name
ATP binding cassette subfamily A member 6
There are no transcripts associated with this gene.

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