Product Details

SNP ID

rs149504057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:132861962 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATTGAAGGAAGCTGGGCCCAAG[A/G]GCTTCTTCAATTCAGAACTGACAGT

Phenotype

MIM: 601918 MIM: 612080

Polymorphism

A/G, 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	1018	Missense Mutation	CCC,CTC	P243L	NP_001275753.1
NM_001288825.2	1018	Missense Mutation	CCC,CTC	P243L	NP_001275754.1
NM_001288826.2	1018	Missense Mutation	CCC,CTC	P243L	NP_001275755.1
NM_001288827.2	1018	Missense Mutation	CCC,CTC	P243L	NP_001275756.1
NM_001288828.2	1018	Missense Mutation	CCC,CTC	P243L	NP_001275757.1
XM_005271957.4	1018	Missense Mutation	CCC,CTC	P243L	XP_005272014.1
XM_006714585.3	1018	Missense Mutation	CCC,CTC	P243L	XP_006714648.1
XM_011543308.2	1018	Missense Mutation	CCC,CTC	P331L	XP_011541610.1
XM_011543309.1	1018	Missense Mutation	CCC,CTC	P243L	XP_011541611.1
XM_011543310.1	1018	Missense Mutation	CCC,CTC	P243L	XP_011541612.1
XM_011543311.2	1018	Missense Mutation	CCC,CTC	P153L	XP_011541613.1

Gene

UQCRQ

Gene Name

ubiquinol-cytochrome c reductase complex III subunit VII

There are no transcripts associated with this gene.

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