Product Details

SNP ID
rs147494745
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:64010713 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTTTTTGAACTCTGTTTAGTAG[C/T]AGATCTCCTTTCTTGATAGTTTCTT
Phenotype
MIM: 607640
Polymorphism
C/T, 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 1312 Silent Mutation CTA,CTG L428L NP_001258708.1
NM_001271780.1 1312 Silent Mutation CTA,CTG L337L NP_001258709.1
NM_001271781.1 1312 Silent Mutation CTA,CTG L336L NP_001258710.1
NM_014814.2 1312 Silent Mutation CTA,CTG L375L NP_055629.1
XM_005265619.1 1312 Silent Mutation CTA,CTG L326L XP_005265676.1
XM_011534288.1 1312 UTR 3 XP_011532590.1
XM_017007569.1 1312 Silent Mutation CTA,CTG L330L XP_016863058.1
Gene
PSMD6-AS2
Gene Name
PSMD6 antisense RNA 2
There are no transcripts associated with this gene.

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