Product Details

SNP ID
rs201547212
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44197014 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCTCAGACTTATTCATATTGTT[A/G]CTATTGGCAATCCTGCCAAGGGGAG
Phenotype
MIM: 600673
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATXN7L3 PubMed Links

Gene Details

Gene
ATXN7L3
Gene Name
ataxin 7 like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098833.1 632 Intron NP_001092303.1
NM_020218.1 632 Intron NP_064603.1
XM_011525038.2 632 Intron XP_011523340.1
XM_011525044.2 632 Intron XP_011523346.1
XM_011525046.2 632 Intron XP_011523348.1
XM_017024880.1 632 Silent Mutation AGC,AGT S130S XP_016880369.1
XM_017024881.1 632 Silent Mutation AGC,AGT S130S XP_016880370.1
XM_017024882.1 632 Intron XP_016880371.1
XM_017024883.1 632 Silent Mutation AGC,AGT S123S XP_016880372.1
XM_017024884.1 632 Silent Mutation AGC,AGT S123S XP_016880373.1
XM_017024885.1 632 Silent Mutation AGC,AGT S123S XP_016880374.1
XM_017024886.1 632 Silent Mutation AGC,AGT S123S XP_016880375.1
Gene
LOC101926967
Gene Name
uncharacterized LOC101926967
There are no transcripts associated with this gene.

Gene
TMUB2
Gene Name
transmembrane and ubiquitin like domain containing 2
There are no transcripts associated with this gene.

Gene
UBTF
Gene Name
upstream binding transcription factor, RNA polymerase I
There are no transcripts associated with this gene.

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