Product Details

SNP ID
rs113823176
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44207583 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCGTCATCCTCATCCTCTTCATC[A/G]TCCTCCTCGGACTCCTTGGAGGGAT
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
There are no transcripts associated with this gene.

Gene
LOC101926967
Gene Name
uncharacterized LOC101926967
There are no transcripts associated with this gene.

Gene
MIR6782
Gene Name
microRNA 6782
There are no transcripts associated with this gene.

Gene
UBTF
Gene Name
upstream binding transcription factor, RNA polymerase I
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001076683.1 2276 Silent Mutation NP_001070151.1
NM_001076684.2 2276 Silent Mutation NP_001070152.1
NM_014233.3 2276 Silent Mutation NP_055048.1
XM_006722059.3 2276 Missense Mutation XP_006722122.1
XM_006722060.2 2276 Intron XP_006722123.1
XM_006722061.2 2276 Intron XP_006722124.1
XM_017024995.1 2276 Missense Mutation XP_016880484.1
XM_017024996.1 2276 Missense Mutation XP_016880485.1
XM_017024997.1 2276 Missense Mutation XP_016880486.1
XM_017024998.1 2276 Missense Mutation XP_016880487.1
XM_017024999.1 2276 Missense Mutation XP_016880488.1
XM_017025000.1 2276 Missense Mutation XP_016880489.1
XM_017025001.1 2276 Missense Mutation XP_016880490.1
XM_017025002.1 2276 Missense Mutation XP_016880491.1
XM_017025003.1 2276 Missense Mutation XP_016880492.1
XM_017025004.1 2276 Silent Mutation XP_016880493.1

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