Product Details

SNP ID

rs182409100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105610533 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCACCCTCAGTAACTTACCTGT[C/T]GGCTGTGTCCTGGGCTGGATATACT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATXN7L1 PubMed Links

Gene Details

Gene

ATXN7L1

Gene Name

ataxin 7 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318229.1	2683	Intron			NP_001305158.1
NM_020725.1	2683	Missense Mutation	CAA,CGA	Q848R	NP_065776.1
NM_138495.1	2683	Missense Mutation	CAA,CGA	Q724R	NP_612504.1
NM_152749.3	2683	Intron			NP_689962.1
XM_005250220.3	2683	Missense Mutation	CAA,CGA	Q848R	XP_005250277.1
XM_006715900.2	2683	Intron			XP_006715963.1
XM_006715901.2	2683	Missense Mutation	CAA,CGA	Q950R	XP_006715964.1
XM_006715902.3	2683	Missense Mutation	CAA,CGA	Q858R	XP_006715965.1
XM_006715903.3	2683	Intron			XP_006715966.1
XM_006715904.3	2683	Intron			XP_006715967.1
XM_011515935.1	2683	Missense Mutation	CAA,CGA	Q950R	XP_011514237.1
XM_011515936.2	2683	Intron			XP_011514238.1
XM_011515937.2	2683	Intron			XP_011514239.1
XM_011515938.2	2683	Intron			XP_011514240.1
XM_011515939.1	2683	Missense Mutation	CAA,CGA	Q858R	XP_011514241.1
XM_011515940.1	2683	Missense Mutation	CAA,CGA	Q848R	XP_011514242.1
XM_011515941.2	2683	Intron			XP_011514243.1
XM_011515942.2	2683	Intron			XP_011514244.1
XM_011515943.2	2683	Intron			XP_011514245.1
XM_011515944.1	2683	Intron			XP_011514246.1
XM_011515945.1	2683	Intron			XP_011514247.1
XM_011515946.1	2683	Intron			XP_011514248.1
XM_011515947.1	2683	Intron			XP_011514249.1
XM_011515950.1	2683	Intron			XP_011514252.1
XM_011515954.2	2683	Intron			XP_011514256.1
XM_017011858.1	2683	Intron			XP_016867347.1
XM_017011859.1	2683	Intron			XP_016867348.1
XM_017011860.1	2683	Intron			XP_016867349.1
XM_017011861.1	2683	Intron			XP_016867350.1

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