Product Details

SNP ID

rs199720308

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:111300125 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCAGAGAAACACATGGGATGTGT[C/T]GATCAAAGCAACCTGTACAGTTCTT

Phenotype

MIM: 602776

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

REV3L PubMed Links

Gene Details

Gene

REV3L

Gene Name

REV3 like, DNA directed polymerase zeta catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286431.1	9914	Missense Mutation	CAA,CGA	Q3017R	NP_001273360.1
NM_001286432.1	9914	Missense Mutation	CAA,CGA	Q3017R	NP_001273361.1
NM_002912.4	9914	Missense Mutation	CAA,CGA	Q3095R	NP_002903.3
XM_011536028.1	9914	Missense Mutation	CAA,CGA	Q3122R	XP_011534330.1
XM_011536029.2	9914	Missense Mutation	CAA,CGA	Q3121R	XP_011534331.1
XM_011536030.2	9914	Missense Mutation	CAA,CGA	Q3096R	XP_011534332.1
XM_011536031.2	9914	Missense Mutation	CAA,CGA	Q3044R	XP_011534333.1
XM_011536032.2	9914	Missense Mutation	CAA,CGA	Q3044R	XP_011534334.1
XM_011536036.2	9914	Intron			XP_011534338.1
XM_017011152.1	9914	Missense Mutation	CAA,CGA	Q3043R	XP_016866641.1
XM_017011153.1	9914	Missense Mutation	CAA,CGA	Q3043R	XP_016866642.1
XM_017011154.1	9914	Missense Mutation	CAA,CGA	Q3043R	XP_016866643.1
XM_017011155.1	9914	Intron			XP_016866644.1

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