Product Details

SNP ID

rs14580

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:82426604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATATCCTTGATCATAATAGTTAT[A/T]AAATCCTTGGTTCCAGTTTTGGCCC

Phenotype

MIM: 607137

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ENOPH1 PubMed Links

Gene Details

Gene

ENOPH1

Gene Name

enolase-phosphatase 1

There are no transcripts associated with this gene.

Gene

HNRNPDL

Gene Name

heterogeneous nuclear ribonucleoprotein D like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001207000.1	1586	Intron			NP_001193929.1
NM_031372.3	1586	Missense Mutation	AAT,TAT	N351Y	NP_112740.1

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