Product Details

SNP ID

rs201065619

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30023803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTCTTAGACAGACCTGACTTCTT[C/T]GATTATCCGGACTCAGACCAAGCCA

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	148	Silent Mutation	TTC,TTT	F47F	NP_001103129.1
NM_001109660.1	148	Silent Mutation	TTC,TTT	F69F	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	148	Intron			NP_001268991.1
NM_001282063.1	148	Intron			NP_001268992.1
NM_001282068.1	148	Intron			NP_001268997.1
NM_003586.2	148	Intron			NP_003577.2
XM_011545975.1	148	Intron			XP_011544277.1
XM_017023776.1	148	Intron			XP_016879265.1
XM_017023777.1	148	Intron			XP_016879266.1
XM_017023778.1	148	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	148	Intron			NP_001305433.1
NM_031478.5	148	Intron			NP_113666.2
XM_005255613.3	148	Intron			XP_005255670.1
XM_005255614.3	148	Intron			XP_005255671.1
XM_005255615.2	148	Intron			XP_005255672.1
XM_017023749.1	148	Intron			XP_016879238.1
XM_017023750.1	148	Intron			XP_016879239.1
XM_017023751.1	148	Intron			XP_016879240.1
XM_017023752.1	148	Intron			XP_016879241.1
XM_017023753.1	148	Intron			XP_016879242.1
XM_017023754.1	148	Intron			XP_016879243.1

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