Product Details

SNP ID: rs2239165
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:6914702 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCAGAGCCCCTGTGGCCCCCTCCC[C/T]TCGCCGCGGCGCCCCTGCCTCCTTT
Phenotype: MIM: 607462 MIM: 131360
Polymorphism: C/T, Transition 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		Intron			NP_001966.1

Gene: LRRC23
Gene Name: leucine rich repeat containing 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135217.1		Intron			NP_001128689.1
NM_006992.3		Intron			NP_008923.1
NM_201650.2		Intron			NP_964013.1

View Full Product Details