Product Details

SNP ID

rs149332468

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:83416763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAAACAATTTGCTTGGCTTGGC[A/G]TCTTGATAAATGATCAATTGTCCTT

Phenotype

MIM: 606769

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HELQ PubMed Links

Gene Details

Gene

HELQ

Gene Name

helicase, POLQ-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297755.1	3016	Missense Mutation	CGC,TGC	R989C	NP_001284684.1
NM_001297756.1	3016	Missense Mutation	CGC,TGC	R559C	NP_001284685.1
NM_001297757.1	3016	Missense Mutation	CGC,TGC	R512C	NP_001284686.1
NM_001297758.1	3016	Intron			NP_001284687.1
NM_001297759.1	3016	Intron			NP_001284688.1
NM_133636.3	3016	Missense Mutation	CGC,TGC	R1056C	NP_598375.2
XM_005262711.1	3016	Missense Mutation	CGC,TGC	R1019C	XP_005262768.1
XM_005262713.2	3016	Missense Mutation	CGC,TGC	R950C	XP_005262770.1
XM_006714076.2	3016	Intron			XP_006714139.1
XM_011531580.2	3016	Intron			XP_011529882.1
XM_017007679.1	3016	Missense Mutation	CGC,TGC	R952C	XP_016863168.1
XM_017007680.1	3016	Missense Mutation	CGC,TGC	R883C	XP_016863169.1
XM_017007681.1	3016	Intron			XP_016863170.1
XM_017007682.1	3016	Missense Mutation	CGC,TGC	R559C	XP_016863171.1
XM_017007683.1	3016	Missense Mutation	CGC,TGC	R559C	XP_016863172.1

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