Product Details

SNP ID
rs202062683
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30006215 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGAGGACAGAGCCCCGGCCGCAG[C/G]GGGCAGCTCACTGGTCAGGGTGTGC
Phenotype
MIM: 604567
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DOC2A PubMed Links

Gene Details

Gene
DOC2A
Gene Name
double C2 domain alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282062.1 1366 Missense Mutation CCT,GCT P392A NP_001268991.1
NM_001282063.1 1366 Missense Mutation CCT,GCT P392A NP_001268992.1
NM_001282068.1 1366 Missense Mutation CCT,GCT P392A NP_001268997.1
NM_003586.2 1366 Missense Mutation CCT,GCT P392A NP_003577.2
XM_011545975.1 1366 Missense Mutation CCT,GCT P392A XP_011544277.1
XM_017023776.1 1366 Missense Mutation CCT,GCT P392A XP_016879265.1
XM_017023777.1 1366 Missense Mutation CCT,GCT P392A XP_016879266.1
XM_017023778.1 1366 Missense Mutation CCT,GCT P274A XP_016879267.1
Gene
INO80E
Gene Name
INO80 complex subunit E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304562.1 1366 Intron NP_001291491.1
NM_001304563.1 1366 Intron NP_001291492.1
NM_173618.2 1366 Intron NP_775889.1
XM_011545809.2 1366 Intron XP_011544111.1
XM_011545811.2 1366 Intron XP_011544113.1
XM_011545812.2 1366 Intron XP_011544114.1
XM_017023169.1 1366 Intron XP_016878658.1

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