Product Details

SNP ID
rs34590097
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:64010931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCTATTTTGCAGTGTAGTCTCCC[A/G]GCAGCAATAAACCTGGACAGTTCCC
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 1207 Silent Mutation GCC,GCT A393A NP_001258708.1
NM_001271780.1 1207 Silent Mutation GCC,GCT A302A NP_001258709.1
NM_001271781.1 1207 Silent Mutation GCC,GCT A301A NP_001258710.1
NM_014814.2 1207 Silent Mutation GCC,GCT A340A NP_055629.1
XM_005265619.1 1207 Silent Mutation GCC,GCT A291A XP_005265676.1
XM_011534288.1 1207 Missense Mutation CCG,CTG P337L XP_011532590.1
XM_017007569.1 1207 Silent Mutation GCC,GCT A295A XP_016863058.1
Gene
PSMD6-AS2
Gene Name
PSMD6 antisense RNA 2
There are no transcripts associated with this gene.

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