Product Details

SNP ID
rs113595171
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30023751 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCCAGACCCAAGCGTGCCACGG[C/A]GTCAGCCCTGGGGACAGAGTCTCCG
Phenotype
MIM: 604567 MIM: 615175
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
C16orf92 PubMed Links

Gene Details

Gene
C16orf92
Gene Name
chromosome 16 open reading frame 92
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001109659.1 96 Missense Mutation GAG,GCG E30A NP_001103129.1
NM_001109660.1 96 Missense Mutation GAG,GCG E52A NP_001103130.1
Gene
DOC2A
Gene Name
double C2 domain alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282062.1 96 Intron NP_001268991.1
NM_001282063.1 96 Intron NP_001268992.1
NM_001282068.1 96 Intron NP_001268997.1
NM_003586.2 96 Intron NP_003577.2
XM_011545975.1 96 Intron XP_011544277.1
XM_017023776.1 96 Intron XP_016879265.1
XM_017023777.1 96 Intron XP_016879266.1
XM_017023778.1 96 Intron XP_016879267.1
Gene
FAM57B
Gene Name
family with sequence similarity 57 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318504.1 96 Intron NP_001305433.1
NM_031478.5 96 Intron NP_113666.2
XM_005255613.3 96 Intron XP_005255670.1
XM_005255614.3 96 Intron XP_005255671.1
XM_005255615.2 96 Intron XP_005255672.1
XM_017023749.1 96 Intron XP_016879238.1
XM_017023750.1 96 Intron XP_016879239.1
XM_017023751.1 96 Intron XP_016879240.1
XM_017023752.1 96 Intron XP_016879241.1
XM_017023753.1 96 Intron XP_016879242.1
XM_017023754.1 96 Intron XP_016879243.1

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