Product Details

SNP ID

rs149870842

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44209370 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCACCTTAACCCAGAGGTCCAG[G/T]TGCACCTTGTACTGCTTTTGCTGCT

Phenotype

MIM: 600673

Polymorphism

G/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	2072	Missense Mutation	CAA,CAC	Q592H	NP_001070151.1
NM_001076684.2	2072	Missense Mutation	CAA,CAC	Q592H	NP_001070152.1
NM_014233.3	2072	Missense Mutation	CAA,CAC	Q629H	NP_055048.1
XM_006722059.3	2072	Missense Mutation	CAA,CAC	Q629H	XP_006722122.1
XM_006722060.2	2072	Intron			XP_006722123.1
XM_006722061.2	2072	Intron			XP_006722124.1
XM_017024995.1	2072	Missense Mutation	CAA,CAC	Q629H	XP_016880484.1
XM_017024996.1	2072	Missense Mutation	CAA,CAC	Q629H	XP_016880485.1
XM_017024997.1	2072	Missense Mutation	CAA,CAC	Q629H	XP_016880486.1
XM_017024998.1	2072	Missense Mutation	CAA,CAC	Q629H	XP_016880487.1
XM_017024999.1	2072	Missense Mutation	CAA,CAC	Q629H	XP_016880488.1
XM_017025000.1	2072	Missense Mutation	CAA,CAC	Q592H	XP_016880489.1
XM_017025001.1	2072	Missense Mutation	CAA,CAC	Q592H	XP_016880490.1
XM_017025002.1	2072	Missense Mutation	CAA,CAC	Q592H	XP_016880491.1
XM_017025003.1	2072	Missense Mutation	CAA,CAC	Q592H	XP_016880492.1
XM_017025004.1	2072	Missense Mutation	CAA,CAC	Q592H	XP_016880493.1

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