Product Details

SNP ID

rs199707130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44209410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTGCTGCTCCTCGGCCAGCTTT[C/T]TGTAGTGCTCCTTCTGGCTCTGGGA

Phenotype

MIM: 600673

Polymorphism

C/T, 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	2032	Missense Mutation	AAA,AGA	K579R	NP_001070151.1
NM_001076684.2	2032	Missense Mutation	AAA,AGA	K579R	NP_001070152.1
NM_014233.3	2032	Missense Mutation	AAA,AGA	K616R	NP_055048.1
XM_006722059.3	2032	Missense Mutation	AAA,AGA	K616R	XP_006722122.1
XM_006722060.2	2032	Intron			XP_006722123.1
XM_006722061.2	2032	Intron			XP_006722124.1
XM_017024995.1	2032	Missense Mutation	AAA,AGA	K616R	XP_016880484.1
XM_017024996.1	2032	Missense Mutation	AAA,AGA	K616R	XP_016880485.1
XM_017024997.1	2032	Missense Mutation	AAA,AGA	K616R	XP_016880486.1
XM_017024998.1	2032	Missense Mutation	AAA,AGA	K616R	XP_016880487.1
XM_017024999.1	2032	Missense Mutation	AAA,AGA	K616R	XP_016880488.1
XM_017025000.1	2032	Missense Mutation	AAA,AGA	K579R	XP_016880489.1
XM_017025001.1	2032	Missense Mutation	AAA,AGA	K579R	XP_016880490.1
XM_017025002.1	2032	Missense Mutation	AAA,AGA	K579R	XP_016880491.1
XM_017025003.1	2032	Missense Mutation	AAA,AGA	K579R	XP_016880492.1
XM_017025004.1	2032	Missense Mutation	AAA,AGA	K579R	XP_016880493.1

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