Product Details

SNP ID

rs146595130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:132861651 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCTTTATAGGCAATTGAGCCAT[C/T]GGGCTCAATGGTCAAAACACTCAAG

Phenotype

MIM: 601918 MIM: 612080

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GDF9 PubMed Links

Gene Details

Gene

GDF9

Gene Name

growth differentiation factor 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288824.2	1329	Missense Mutation	AAT,GAT	N347D	NP_001275753.1
NM_001288825.2	1329	Missense Mutation	AAT,GAT	N347D	NP_001275754.1
NM_001288826.2	1329	Missense Mutation	AAT,GAT	N347D	NP_001275755.1
NM_001288827.2	1329	Missense Mutation	AAT,GAT	N347D	NP_001275756.1
NM_001288828.2	1329	Missense Mutation	AAT,GAT	N347D	NP_001275757.1
XM_005271957.4	1329	Missense Mutation	AAT,GAT	N347D	XP_005272014.1
XM_006714585.3	1329	Missense Mutation	AAT,GAT	N347D	XP_006714648.1
XM_011543308.2	1329	Missense Mutation	AAT,GAT	N435D	XP_011541610.1
XM_011543309.1	1329	Missense Mutation	AAT,GAT	N347D	XP_011541611.1
XM_011543310.1	1329	Missense Mutation	AAT,GAT	N347D	XP_011541612.1
XM_011543311.2	1329	Missense Mutation	AAT,GAT	N257D	XP_011541613.1

Gene

UQCRQ

Gene Name

ubiquinol-cytochrome c reductase complex III subunit VII

There are no transcripts associated with this gene.

View Full Product Details