Product Details

SNP ID

hCV57749080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:10124810 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAAACATACATTCTGAAATGTAT[A/G]GTCTTCTTATTGACACTTACATAAA

Phenotype

MIM: 180390

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RRM2 PubMed Links

Gene Details

Gene

RRM2

Gene Name

ribonucleotide reductase regulatory subunit M2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034.3	592	Missense Mutation	AGT,GGT	S177G	NP_001025.1
NM_001165931.1	592	Missense Mutation	AGT,GGT	S237G	NP_001159403.1

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