Product Details

SNP ID

rs112677599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:913903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACACCTCTCTGCTACCTGTTGTGC[A/G]TTGGTCAGCGCTATAAGTTTGGAGG

Phenotype

MIM: 600392 MIM: 605232

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RAD52 PubMed Links

Gene Details

Gene

RAD52

Gene Name

RAD52 homolog, DNA repair protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297419.1	1582	Missense Mutation	CGC,TGC	R396C	NP_001284348.1
NM_001297420.1	1582	Intron			NP_001284349.1
NM_001297421.1	1582	Missense Mutation	CGC,TGC	R319C	NP_001284350.1
NM_001297422.1	1582	Intron			NP_001284351.1
NM_134424.3	1582	Missense Mutation	CGC,TGC	R396C	NP_602296.2
XM_005253720.4	1582	Missense Mutation	CGC,TGC	R396C	XP_005253777.1
XM_005253721.2	1582	Missense Mutation	CGC,TGC	R396C	XP_005253778.1
XM_011520990.2	1582	Missense Mutation	CGC,TGC	R396C	XP_011519292.1
XM_011520991.2	1582	Missense Mutation	CGC,TGC	R396C	XP_011519293.1
XM_011520993.2	1582	Intron			XP_011519295.1
XM_011520995.2	1582	Missense Mutation	CGC,TGC	R298C	XP_011519297.1
XM_017019769.1	1582	Missense Mutation	CGC,TGC	R396C	XP_016875258.1
XM_017019770.1	1582	Missense Mutation	CGC,TGC	R362C	XP_016875259.1
XM_017019771.1	1582	Intron			XP_016875260.1

Gene

WNK1

Gene Name

WNK lysine deficient protein kinase 1

There are no transcripts associated with this gene.

View Full Product Details