Product Details

SNP ID
rs139629952
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:132862350 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTGTTTCTTTCCAAATTCAAACT[A/G]TGAGTTAAAGGTAAATGAGTATGGA
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_001288824.2 630 Nonsense Mutation CAG,TAG Q114* NP_001275753.1
NM_001288825.2 630 Nonsense Mutation CAG,TAG Q114* NP_001275754.1
NM_001288826.2 630 Nonsense Mutation CAG,TAG Q114* NP_001275755.1
NM_001288827.2 630 Nonsense Mutation CAG,TAG Q114* NP_001275756.1
NM_001288828.2 630 Nonsense Mutation CAG,TAG Q114* NP_001275757.1
XM_005271957.4 630 Nonsense Mutation CAG,TAG Q114* XP_005272014.1
XM_006714585.3 630 Nonsense Mutation CAG,TAG Q114* XP_006714648.1
XM_011543308.2 630 Nonsense Mutation CAG,TAG Q202* XP_011541610.1
XM_011543309.1 630 Nonsense Mutation CAG,TAG Q114* XP_011541611.1
XM_011543310.1 630 Nonsense Mutation CAG,TAG Q114* XP_011541612.1
XM_011543311.2 630 Nonsense Mutation CAG,TAG Q24* 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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