Product Details

SNP ID
rs145500623
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30000827 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACCCAAGTTGTCTGACACACCGG[C/T]CCCTAAGAGGTGAGAAGAAGATGCA
Phenotype
MIM: 604567 MIM: 603365 MIM: 613199
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DOC2A PubMed Links

Gene Details

Gene
DOC2A
Gene Name
double C2 domain alpha
There are no transcripts associated with this gene.

Gene
HIRIP3
Gene Name
HIRA interacting protein 3
There are no transcripts associated with this gene.

Gene
INO80E
Gene Name
INO80 complex subunit E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304562.1 361 Missense Mutation GCC,GTC A92V NP_001291491.1
NM_001304563.1 361 Missense Mutation GCC,GTC A92V NP_001291492.1
NM_173618.2 361 Missense Mutation GCC,GTC A92V NP_775889.1
XM_011545809.2 361 Missense Mutation GCC,GTC A92V XP_011544111.1
XM_011545811.2 361 Missense Mutation GCC,GTC A92V XP_011544113.1
XM_011545812.2 361 Missense Mutation GCC,GTC A92V XP_011544114.1
XM_017023169.1 361 Missense Mutation GCC,GTC A92V XP_016878658.1
Gene
TAOK2
Gene Name
TAO kinase 2
There are no transcripts associated with this gene.

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