Product Details

SNP ID

rs199878247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:116850674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTCTCCTTCTCTTTTTCTGGCA[C/G]AAGTTCTAACTCTGGTATTAGCTGA

Phenotype

MIM: 606462

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RAD21 PubMed Links

Gene Details

Gene

RAD21

Gene Name

RAD21 cohesin complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006265.2	1852	Missense Mutation	CTG,GTG	L522V	NP_006256.1

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