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SNP ID

rs140481354

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6930040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGACAGAGGGCTGTGAAACAGC[A/T]TCATGCAGGGGAAATACTATAGAAC

Phenotype

MIM: 607462 MIM: 131360

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ATN1 PubMed Links

Gene Details

Gene

ATN1

Gene Name

atrophin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007026.1		Intron			NP_001007027.1
NM_001940.3		Intron			NP_001931.2

Gene

ENO2

Gene Name

enolase 2

There are no transcripts associated with this gene.

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