Product Details

SNP ID
rs148330421
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:68975952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGGAGGAGTTTCCACTTCACC[A/G]AGGGATCAAAGTCCTCTTCAAGATC
Phenotype
MIM: 612507
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ABCA9 PubMed Links

Gene Details

Gene
ABCA9
Gene Name
ATP binding cassette subfamily A member 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080283.3 4946 Missense Mutation TCG,TTG S1613L NP_525022.2
XM_017024011.1 4946 Missense Mutation TCG,TTG S1621L XP_016879500.1
XM_017024012.1 4946 Missense Mutation TCG,TTG S1613L XP_016879501.1
XM_017024013.1 4946 Missense Mutation TCG,TTG S1613L XP_016879502.1
XM_017024014.1 4946 Missense Mutation TCG,TTG S1613L XP_016879503.1
XM_017024015.1 4946 Missense Mutation TCG,TTG S1463L XP_016879504.1

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