Product Details

SNP ID

rs147116533

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71860524 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTCTGGGCTTCCAGCAGTTTAC[A/G]GTAGGCAGCACAGTTGTTGCACACA

Phenotype

MIM: 614301

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATXN1L PubMed Links

Gene Details

Gene

ATXN1L

Gene Name

ataxin 1 like

There are no transcripts associated with this gene.

Gene

ZNF821

Gene Name

zinc finger protein 821

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201552.1	671	Missense Mutation	CGT,TGT	R245C	NP_001188481.1
NM_001201553.1	671	Missense Mutation	CGT,TGT	R245C	NP_001188482.1
NM_001201554.1	671	Missense Mutation	CGT,TGT	R203C	NP_001188483.1
NM_001201556.1	671	UTR 3			NP_001188485.1
NM_001318238.1	671	Missense Mutation	CGT,TGT	R95C	NP_001305167.1
NM_001318239.1	671	Missense Mutation	CGT,TGT	R95C	NP_001305168.1
NM_017530.2	671	Missense Mutation	CGT,TGT	R203C	NP_060000.1
XM_005256033.2	671	Missense Mutation	CGT,TGT	R245C	XP_005256090.1
XM_006721233.1	671	Missense Mutation	CGT,TGT	R245C	XP_006721296.1
XM_011523211.2	671	Missense Mutation	CGT,TGT	R245C	XP_011521513.1
XM_011523212.2	671	Missense Mutation	CGT,TGT	R245C	XP_011521514.1
XM_011523214.2	671	Missense Mutation	CGT,TGT	R95C	XP_011521516.1
XM_011523215.2	671	Missense Mutation	CGT,TGT	R95C	XP_011521517.1
XM_011523220.2	671	Missense Mutation	CGT,TGT	R42C	XP_011521522.1
XM_017023409.1	671	Missense Mutation	CGT,TGT	R245C	XP_016878898.1
XM_017023410.1	671	Missense Mutation	CGT,TGT	R245C	XP_016878899.1
XM_017023411.1	671	Missense Mutation	CGT,TGT	R245C	XP_016878900.1
XM_017023412.1	671	Missense Mutation	CGT,TGT	R245C	XP_016878901.1
XM_017023413.1	671	Missense Mutation	CGT,TGT	R235C	XP_016878902.1
XM_017023414.1	671	Missense Mutation	CGT,TGT	R203C	XP_016878903.1
XM_017023415.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878904.1
XM_017023416.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878905.1
XM_017023417.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878906.1
XM_017023418.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878907.1
XM_017023419.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878908.1
XM_017023420.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878909.1
XM_017023421.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878910.1
XM_017023422.1	671	Missense Mutation	CGT,TGT	R95C	XP_016878911.1
XM_017023423.1	671	Missense Mutation	CGT,TGT	R42C	XP_016878912.1
XM_017023424.1	671	Missense Mutation	CGT,TGT	R42C	XP_016878913.1
XM_017023425.1	671	Missense Mutation	CGT,TGT	R42C	XP_016878914.1

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