Product Details

SNP ID
rs147595057
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44205764 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAATTTAATAGGTCAGTGACATG[A/T]CCATAAAAAAGAACCCCCCAAATTT
Phenotype
MIM: 600673
Polymorphism
A/T, Transversion 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 4009 UTR 3 NP_001070151.1
NM_001076684.2 4009 UTR 3 NP_001070152.1
NM_014233.3 4009 UTR 3 NP_055048.1
XM_006722059.3 4009 UTR 3 XP_006722122.1
XM_006722060.2 4009 Intron XP_006722123.1
XM_006722061.2 4009 Intron XP_006722124.1
XM_017024995.1 4009 UTR 3 XP_016880484.1
XM_017024996.1 4009 UTR 3 XP_016880485.1
XM_017024997.1 4009 UTR 3 XP_016880486.1
XM_017024998.1 4009 UTR 3 XP_016880487.1
XM_017024999.1 4009 UTR 3 XP_016880488.1
XM_017025000.1 4009 UTR 3 XP_016880489.1
XM_017025001.1 4009 UTR 3 XP_016880490.1
XM_017025002.1 4009 UTR 3 XP_016880491.1
XM_017025003.1 4009 Intron XP_016880492.1
XM_017025004.1 4009 UTR 3 XP_016880493.1

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