Product Details

SNP ID

rs143743662

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:912162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATGGGGAAGTAGAAACAGTTGC[A/G]TTTGAGCATCCCTAATTGAAATGCT

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	2882	UTR 3			NP_001284348.1
NM_001297420.1	2882	Intron			NP_001284349.1
NM_001297421.1	2882	UTR 3			NP_001284350.1
NM_001297422.1	2882	Intron			NP_001284351.1
NM_134424.3	2882	UTR 3			NP_602296.2
XM_005253720.4	2882	UTR 3			XP_005253777.1
XM_005253721.2	2882	UTR 3			XP_005253778.1
XM_011520990.2	2882	UTR 3			XP_011519292.1
XM_011520991.2	2882	UTR 3			XP_011519293.1
XM_011520993.2	2882	Intron			XP_011519295.1
XM_011520995.2	2882	UTR 3			XP_011519297.1
XM_017019769.1	2882	UTR 3			XP_016875258.1
XM_017019770.1	2882	UTR 3			XP_016875259.1
XM_017019771.1	2882	Intron			XP_016875260.1

Gene

WNK1

Gene Name

WNK lysine deficient protein kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184985.1	2882	Intron			NP_001171914.1
NM_014823.2	2882	Intron			NP_055638.2
NM_018979.3	2882	Intron			NP_061852.3
NM_213655.4	2882	Intron			NP_998820.3
XM_006719003.2	2882	Intron			XP_006719066.1
XM_011520997.2	2882	Intron			XP_011519299.1
XM_011520998.2	2882	Intron			XP_011519300.1
XM_011520999.2	2882	Intron			XP_011519301.1
XM_011521000.2	2882	Intron			XP_011519302.1
XM_011521001.2	2882	Intron			XP_011519303.1
XM_011521002.2	2882	Intron			XP_011519304.1
XM_011521003.2	2882	Intron			XP_011519305.1
XM_011521004.2	2882	Intron			XP_011519306.1
XM_011521005.2	2882	Intron			XP_011519307.1
XM_011521006.2	2882	Intron			XP_011519308.1
XM_011521007.2	2882	Intron			XP_011519309.1
XM_011521008.2	2882	Intron			XP_011519310.1
XM_011521009.2	2882	Intron			XP_011519311.1
XM_017019834.1	2882	Intron			XP_016875323.1
XM_017019835.1	2882	Intron			XP_016875324.1
XM_017019836.1	2882	Intron			XP_016875325.1
XM_017019837.1	2882	Intron			XP_016875326.1
XM_017019838.1	2882	Intron			XP_016875327.1
XM_017019839.1	2882	Intron			XP_016875328.1

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