Product Details

SNP ID

rs200051569

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:151416626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTAAGAATTCAGACAAAAATGTA[C/T]GTACTAGAGCACTTTGGGTGATATC

Phenotype

MIM: 608952

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RIF1 PubMed Links

Gene Details

Gene

RIF1

Gene Name

replication timing regulatory factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177663.1	387	Missense Mutation	CGT,TGT	R116C	NP_001171134.1
NM_001177664.1	387	Missense Mutation	CGT,TGT	R116C	NP_001171135.1
NM_001177665.1	387	Missense Mutation	CGT,TGT	R116C	NP_001171136.1
NM_018151.4	387	Missense Mutation	CGT,TGT	R116C	NP_060621.3
XM_005246665.3	387	Missense Mutation	CGT,TGT	R116C	XP_005246722.1
XM_011511395.2	387	Missense Mutation	CGT,TGT	R116C	XP_011509697.1
XM_017004422.1	387	Missense Mutation	CGT,TGT	R116C	XP_016859911.1
XM_017004423.1	387	Missense Mutation	CGT,TGT	R116C	XP_016859912.1
XM_017004424.1	387	Missense Mutation	CGT,TGT	R80C	XP_016859913.1
XM_017004425.1	387	Missense Mutation	CGT,TGT	R116C	XP_016859914.1

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