Product Details

SNP ID

rs200621442

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71860152 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCTGCCATGGCAGAAGGGTCCT[C/G]GCCAAACTGAGCTCGCAACATCATG

Phenotype

MIM: 614301

Polymorphism

C/G, Transversion 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	1043	Missense Mutation	CAG,GAG	Q369E	NP_001188481.1
NM_001201553.1	1043	Missense Mutation	CAG,GAG	Q369E	NP_001188482.1
NM_001201554.1	1043	Missense Mutation	CAG,GAG	Q327E	NP_001188483.1
NM_001201556.1	1043	UTR 3			NP_001188485.1
NM_001318238.1	1043	Missense Mutation	CAG,GAG	Q219E	NP_001305167.1
NM_001318239.1	1043	Missense Mutation	CAG,GAG	Q219E	NP_001305168.1
NM_017530.2	1043	Missense Mutation	CAG,GAG	Q327E	NP_060000.1
XM_005256033.2	1043	Missense Mutation	CAG,GAG	Q369E	XP_005256090.1
XM_006721233.1	1043	Missense Mutation	CAG,GAG	Q369E	XP_006721296.1
XM_011523211.2	1043	Missense Mutation	CAG,GAG	Q369E	XP_011521513.1
XM_011523212.2	1043	Missense Mutation	CAG,GAG	Q369E	XP_011521514.1
XM_011523214.2	1043	Missense Mutation	CAG,GAG	Q219E	XP_011521516.1
XM_011523215.2	1043	Missense Mutation	CAG,GAG	Q219E	XP_011521517.1
XM_011523220.2	1043	Missense Mutation	CAG,GAG	Q166E	XP_011521522.1
XM_017023409.1	1043	Missense Mutation	CAG,GAG	Q369E	XP_016878898.1
XM_017023410.1	1043	Missense Mutation	CAG,GAG	Q369E	XP_016878899.1
XM_017023411.1	1043	Missense Mutation	CAG,GAG	Q369E	XP_016878900.1
XM_017023412.1	1043	Missense Mutation	CAG,GAG	Q369E	XP_016878901.1
XM_017023413.1	1043	Missense Mutation	CAG,GAG	Q359E	XP_016878902.1
XM_017023414.1	1043	Missense Mutation	CAG,GAG	Q327E	XP_016878903.1
XM_017023415.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878904.1
XM_017023416.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878905.1
XM_017023417.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878906.1
XM_017023418.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878907.1
XM_017023419.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878908.1
XM_017023420.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878909.1
XM_017023421.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878910.1
XM_017023422.1	1043	Missense Mutation	CAG,GAG	Q219E	XP_016878911.1
XM_017023423.1	1043	Missense Mutation	CAG,GAG	Q166E	XP_016878912.1
XM_017023424.1	1043	Missense Mutation	CAG,GAG	Q166E	XP_016878913.1
XM_017023425.1	1043	Missense Mutation	CAG,GAG	Q166E	XP_016878914.1

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