Product Details

SNP ID

rs150867739

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35434206 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCTTGAAGTTGACATGCAGTGC[A/C]TTCCGACTGCAGCGAGCCTTAAGGT

Phenotype

MIM: 601146

Polymorphism

A/C, Transversion 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	1471	Missense Mutation	AAG,AAT	K403N	NP_000548.2
NM_001319138.1	1471	Missense Mutation	AAG,AAT	K403N	NP_001306067.1
XM_011529075.2	1471	Missense Mutation	AAG,AAT	K403N	XP_011527377.1

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