Product Details

SNP ID

rs201632688

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44209486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACCATGCGCTCCTTCAGCGGCA[A/G]GTGGTTCAGCTCCCCATTGGACAGC

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	1956	Silent Mutation	CTG,TTG	L554L	NP_001070151.1
NM_001076684.2	1956	Silent Mutation	CTG,TTG	L554L	NP_001070152.1
NM_014233.3	1956	Silent Mutation	CTG,TTG	L591L	NP_055048.1
XM_006722059.3	1956	Silent Mutation	CTG,TTG	L591L	XP_006722122.1
XM_006722060.2	1956	Intron			XP_006722123.1
XM_006722061.2	1956	Intron			XP_006722124.1
XM_017024995.1	1956	Silent Mutation	CTG,TTG	L591L	XP_016880484.1
XM_017024996.1	1956	Silent Mutation	CTG,TTG	L591L	XP_016880485.1
XM_017024997.1	1956	Silent Mutation	CTG,TTG	L591L	XP_016880486.1
XM_017024998.1	1956	Silent Mutation	CTG,TTG	L591L	XP_016880487.1
XM_017024999.1	1956	Silent Mutation	CTG,TTG	L591L	XP_016880488.1
XM_017025000.1	1956	Silent Mutation	CTG,TTG	L554L	XP_016880489.1
XM_017025001.1	1956	Silent Mutation	CTG,TTG	L554L	XP_016880490.1
XM_017025002.1	1956	Silent Mutation	CTG,TTG	L554L	XP_016880491.1
XM_017025003.1	1956	Silent Mutation	CTG,TTG	L554L	XP_016880492.1
XM_017025004.1	1956	Silent Mutation	CTG,TTG	L554L	XP_016880493.1

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