Product Details

SNP ID
rs201490407
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:77201392 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAACTGGATGTACCATTTAAAGTT[A/C]AAGTTGGTCACATAGGTAAGCCATA
Phenotype
MIM: 605978
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
VPS13A PubMed Links

Gene Details

Gene
VPS13A
Gene Name
vacuolar protein sorting 13 homolog A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018037.1 432 Missense Mutation AAA,CAA K58Q NP_001018047.1
NM_001018038.2 432 Missense Mutation AAA,CAA K58Q NP_001018048.1
NM_015186.3 432 Missense Mutation AAA,CAA K58Q NP_056001.1
NM_033305.2 432 Missense Mutation AAA,CAA K58Q NP_150648.2

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