Product Details

SNP ID

rs200544811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:70107341 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCCTCTAGTGACTCCACGTAG[A/C]AGAGAGTCCTGGCTGGCTGCTGAGT

Phenotype

MIM: 603680 MIM: 605332

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATXN8OS PubMed Links

Gene Details

Gene

ATXN8OS

Gene Name

ATXN8 opposite strand (non-protein coding)

There are no transcripts associated with this gene.

Gene

KLHL1

Gene Name

kelch like family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286725.1	1153	Missense Mutation	TGC,TTC	C120F	NP_001273654.1
NM_020866.2	1153	Missense Mutation	TGC,TTC	C120F	NP_065917.1
XM_017020678.1	1153	Intron			XP_016876167.1
XM_017020679.1	1153	Intron			XP_016876168.1

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