Product Details

SNP ID

rs121434265

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:193125142 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGGAAGGCCAACCCAGAGAGTA[C/G]TACACATTGGATTCCATTTTATTTC

Phenotype

MIM: 607393

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CDC73 PubMed Links

Gene Details

Gene

CDC73

Gene Name

cell division cycle 73

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024529.4	405	Nonsense Mutation	TAC,TAG	Y54*	NP_078805.3
XM_006711537.3	405	Nonsense Mutation	TAC,TAG	Y54*	XP_006711600.1

View Full Product Details