Product Details

SNP ID

rs116266545

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44148077 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGCACGCCCAGTGCTGACAGC[C/T]GTCCATCATGCATAGGAGCAGCTCC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C17orf53 PubMed Links

Gene Details

Gene

C17orf53

Gene Name

chromosome 17 open reading frame 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171251.2	365	Missense Mutation	CGT,TGT	R92C	NP_001164722.1
NM_001321310.1	365	Missense Mutation	CGT,TGT	R92C	NP_001308239.1
NM_001321311.1	365	Missense Mutation	CGT,TGT	R92C	NP_001308240.1
NM_024032.4	365	Missense Mutation	CGT,TGT	R92C	NP_076937.2
XM_011525187.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523489.1
XM_011525188.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523490.1
XM_011525189.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523491.1
XM_011525190.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523492.1
XM_011525191.2	365	Missense Mutation	CGT,TGT	R92C	XP_011523493.1
XM_011525192.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523494.1
XM_011525193.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523495.1
XM_011525194.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523496.1
XM_011525195.1	365	Missense Mutation	CGT,TGT	R92C	XP_011523497.1
XM_011525197.2	365	Intron			XP_011523499.1
XM_017025031.1	365	UTR 5			XP_016880520.1
XM_017025032.1	365	UTR 5			XP_016880521.1

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