Product Details

SNP ID
rs372957737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30023777 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGCCCTGGGGACAGAGTCTCCG[T/C]GCTTCTTAGACAGACCTGACTTCTT
Phenotype
MIM: 604567 MIM: 615175
Polymorphism
T/C, Transition 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_001109659.1 122 Missense Mutation CGC,TGC R39C NP_001103129.1
NM_001109660.1 122 Missense Mutation CGC,TGC R61C 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_001282062.1 122 Intron NP_001268991.1
NM_001282063.1 122 Intron NP_001268992.1
NM_001282068.1 122 Intron NP_001268997.1
NM_003586.2 122 Intron NP_003577.2
XM_011545975.1 122 Intron XP_011544277.1
XM_017023776.1 122 Intron XP_016879265.1
XM_017023777.1 122 Intron XP_016879266.1
XM_017023778.1 122 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_001318504.1 122 Intron NP_001305433.1
NM_031478.5 122 Intron NP_113666.2
XM_005255613.3 122 Intron XP_005255670.1
XM_005255614.3 122 Intron XP_005255671.1
XM_005255615.2 122 Intron XP_005255672.1
XM_017023749.1 122 Intron XP_016879238.1
XM_017023750.1 122 Intron XP_016879239.1
XM_017023751.1 122 Intron XP_016879240.1
XM_017023752.1 122 Intron XP_016879241.1
XM_017023753.1 122 Intron XP_016879242.1
XM_017023754.1 122 Intron XP_016879243.1

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