Product Details

SNP ID

rs147092428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:2031877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTCCAGGAGTTGTAATTATGTGT[A/G]TACCTGTCTTTTCCCCCACTAGACT

Phenotype

MIM: 603527 MIM: 610461

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DPH1 PubMed Links

Gene Details

Gene

DPH1

Gene Name

diphthamide biosynthesis 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001383.3		Intron			NP_001374.3

Gene

RTN4RL1

Gene Name

reticulon 4 receptor like 1

There are no transcripts associated with this gene.

View Full Product Details