Product Details

SNP ID

rs144639070

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11454818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGCCCCCCGACAGGCCCACGCCC[G/T]CCAGGCCGCTCATACCATCGATGGC

Phenotype

MIM: 603458 MIM: 177060

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ELAVL3 PubMed Links

Gene Details

Gene

ELAVL3

Gene Name

ELAV like neuron-specific RNA binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001420.3	1195	Missense Mutation	GAG,GCG	E271A	NP_001411.2
NM_032281.2	1195	Missense Mutation	GAG,GCG	E264A	NP_115657.2
XM_011527778.2	1195	Missense Mutation	GAG,GCG	E270A	XP_011526080.1

Gene

PRKCSH

Gene Name

protein kinase C substrate 80K-H

There are no transcripts associated with this gene.

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