Product Details

SNP ID

rs11550247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6915866 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGAAGATCTGGGCCCGGGAGATC[A/C]TGGACTCCCGCGGGAACCCCACAGT

Phenotype

MIM: 607462 MIM: 131360

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATN1 PubMed Links

Gene Details

Gene

ATN1

Gene Name

atrophin 1

There are no transcripts associated with this gene.

Gene

ENO2

Gene Name

enolase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001975.2	256	Missense Mutation	ATG,CTG	M12L	NP_001966.1

Gene

LRRC23

Gene Name

leucine rich repeat containing 23

There are no transcripts associated with this gene.

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