Product Details

SNP ID

rs139413270

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35434256 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGCTGGGTCGCTTGCCCTGGC[A/G]AGTGGCCAGTGGGGCCCGCCGTTTT

Phenotype

MIM: 601146

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GDF5 PubMed Links

Gene Details

Gene

GDF5

Gene Name

growth differentiation factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000557.4	1421	Missense Mutation	CGC,TGC	R387C	NP_000548.2
NM_001319138.1	1421	Missense Mutation	CGC,TGC	R387C	NP_001306067.1
XM_011529075.2	1421	Missense Mutation	CGC,TGC	R387C	XP_011527377.1

View Full Product Details