Product Details

SNP ID

rs201161044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44209488 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCATGCGCTCCTTCAGCGGCAGG[G/T]GGTTCAGCTCCCCATTGGACAGCAG

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	1954	Missense Mutation	CAC,CCC	H553P	NP_001070151.1
NM_001076684.2	1954	Missense Mutation	CAC,CCC	H553P	NP_001070152.1
NM_014233.3	1954	Missense Mutation	CAC,CCC	H590P	NP_055048.1
XM_006722059.3	1954	Missense Mutation	CAC,CCC	H590P	XP_006722122.1
XM_006722060.2	1954	Intron			XP_006722123.1
XM_006722061.2	1954	Intron			XP_006722124.1
XM_017024995.1	1954	Missense Mutation	CAC,CCC	H590P	XP_016880484.1
XM_017024996.1	1954	Missense Mutation	CAC,CCC	H590P	XP_016880485.1
XM_017024997.1	1954	Missense Mutation	CAC,CCC	H590P	XP_016880486.1
XM_017024998.1	1954	Missense Mutation	CAC,CCC	H590P	XP_016880487.1
XM_017024999.1	1954	Missense Mutation	CAC,CCC	H590P	XP_016880488.1
XM_017025000.1	1954	Missense Mutation	CAC,CCC	H553P	XP_016880489.1
XM_017025001.1	1954	Missense Mutation	CAC,CCC	H553P	XP_016880490.1
XM_017025002.1	1954	Missense Mutation	CAC,CCC	H553P	XP_016880491.1
XM_017025003.1	1954	Missense Mutation	CAC,CCC	H553P	XP_016880492.1
XM_017025004.1	1954	Missense Mutation	CAC,CCC	H553P	XP_016880493.1

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