Product Details

SNP ID

rs202191694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30023775 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTCAGCCCTGGGGACAGAGTCTC[C/T]GCGCTTCTTAGACAGACCTGACTTC

Phenotype

MIM: 604567 MIM: 615175

Polymorphism

C/T, 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	120	Missense Mutation	CCG,CTG	P38L	NP_001103129.1
NM_001109660.1	120	Missense Mutation	CCG,CTG	P60L	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	120	Intron			NP_001268991.1
NM_001282063.1	120	Intron			NP_001268992.1
NM_001282068.1	120	Intron			NP_001268997.1
NM_003586.2	120	Intron			NP_003577.2
XM_011545975.1	120	Intron			XP_011544277.1
XM_017023776.1	120	Intron			XP_016879265.1
XM_017023777.1	120	Intron			XP_016879266.1
XM_017023778.1	120	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	120	Intron			NP_001305433.1
NM_031478.5	120	Intron			NP_113666.2
XM_005255613.3	120	Intron			XP_005255670.1
XM_005255614.3	120	Intron			XP_005255671.1
XM_005255615.2	120	Intron			XP_005255672.1
XM_017023749.1	120	Intron			XP_016879238.1
XM_017023750.1	120	Intron			XP_016879239.1
XM_017023751.1	120	Intron			XP_016879240.1
XM_017023752.1	120	Intron			XP_016879241.1
XM_017023753.1	120	Intron			XP_016879242.1
XM_017023754.1	120	Intron			XP_016879243.1

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