Product Details

SNP ID
rs77843045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:64010916 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTATTTCATTCACTTTATCTATTTT[A/G]CAGTGTAGTCTCCCGGCAGCAATAA
Phenotype
MIM: 607640
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATXN7 PubMed Links

Gene Details

Gene
ATXN7
Gene Name
ataxin 7
There are no transcripts associated with this gene.

Gene
PSMD6
Gene Name
proteasome 26S subunit, non-ATPase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271779.1 1222 Silent Mutation TGC,TGT C398C NP_001258708.1
NM_001271780.1 1222 Silent Mutation TGC,TGT C307C NP_001258709.1
NM_001271781.1 1222 Silent Mutation TGC,TGT C306C NP_001258710.1
NM_014814.2 1222 Silent Mutation TGC,TGT C345C NP_055629.1
XM_005265619.1 1222 Silent Mutation TGC,TGT C296C XP_005265676.1
XM_011534288.1 1222 Missense Mutation GCA,GTA A342V XP_011532590.1
XM_017007569.1 1222 Silent Mutation TGC,TGT C300C XP_016863058.1
Gene
PSMD6-AS2
Gene Name
PSMD6 antisense RNA 2
There are no transcripts associated with this gene.

View Full Product Details