Product Details

SNP ID

rs200240010

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71860365 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGCTTGGCTTCACGGTCCCTCA[C/T]GCGCCTCACCTCCCGCTCCTCGGGG

Phenotype

MIM: 614301

Polymorphism

C/T, 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	830	Missense Mutation	ATG,GTG	M298V	NP_001188481.1
NM_001201553.1	830	Missense Mutation	ATG,GTG	M298V	NP_001188482.1
NM_001201554.1	830	Missense Mutation	ATG,GTG	M256V	NP_001188483.1
NM_001201556.1	830	UTR 3			NP_001188485.1
NM_001318238.1	830	Missense Mutation	ATG,GTG	M148V	NP_001305167.1
NM_001318239.1	830	Missense Mutation	ATG,GTG	M148V	NP_001305168.1
NM_017530.2	830	Missense Mutation	ATG,GTG	M256V	NP_060000.1
XM_005256033.2	830	Missense Mutation	ATG,GTG	M298V	XP_005256090.1
XM_006721233.1	830	Missense Mutation	ATG,GTG	M298V	XP_006721296.1
XM_011523211.2	830	Missense Mutation	ATG,GTG	M298V	XP_011521513.1
XM_011523212.2	830	Missense Mutation	ATG,GTG	M298V	XP_011521514.1
XM_011523214.2	830	Missense Mutation	ATG,GTG	M148V	XP_011521516.1
XM_011523215.2	830	Missense Mutation	ATG,GTG	M148V	XP_011521517.1
XM_011523220.2	830	Missense Mutation	ATG,GTG	M95V	XP_011521522.1
XM_017023409.1	830	Missense Mutation	ATG,GTG	M298V	XP_016878898.1
XM_017023410.1	830	Missense Mutation	ATG,GTG	M298V	XP_016878899.1
XM_017023411.1	830	Missense Mutation	ATG,GTG	M298V	XP_016878900.1
XM_017023412.1	830	Missense Mutation	ATG,GTG	M298V	XP_016878901.1
XM_017023413.1	830	Missense Mutation	ATG,GTG	M288V	XP_016878902.1
XM_017023414.1	830	Missense Mutation	ATG,GTG	M256V	XP_016878903.1
XM_017023415.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878904.1
XM_017023416.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878905.1
XM_017023417.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878906.1
XM_017023418.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878907.1
XM_017023419.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878908.1
XM_017023420.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878909.1
XM_017023421.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878910.1
XM_017023422.1	830	Missense Mutation	ATG,GTG	M148V	XP_016878911.1
XM_017023423.1	830	Missense Mutation	ATG,GTG	M95V	XP_016878912.1
XM_017023424.1	830	Missense Mutation	ATG,GTG	M95V	XP_016878913.1
XM_017023425.1	830	Missense Mutation	ATG,GTG	M95V	XP_016878914.1

View Full Product Details