Product Details

SNP ID

rs201387426

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12673311 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGAAGGTGTTCTTCTGGGACCTG[A/G]TGGAGGTGAGGTGCCCCCAGCCCTA

Phenotype

MIM: 600944 MIM: 609458 MIM: 616850

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DHPS PubMed Links

Gene Details

Gene

DHPS

Gene Name

deoxyhypusine synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206974.1	1138	Intron			NP_001193903.1
NM_001930.3	1138	Intron			NP_001921.1
NM_013406.2	1138	Intron			NP_037538.1
XM_011527770.1	1138	Intron			XP_011526072.1
XM_011527771.2	1138	Intron			XP_011526073.1

Gene

MAN2B1

Gene Name

mannosidase alpha class 2B member 1

There are no transcripts associated with this gene.

Gene

WDR83

Gene Name

WD repeat domain 83

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099737.2	1138	Missense Mutation	ATG,GTG	M265V	NP_001093207.1
NM_032332.3	1138	Missense Mutation	ATG,GTG	M265V	NP_115708.1

Gene

WDR83OS

Gene Name

WD repeat domain 83 opposite strand

There are no transcripts associated with this gene.

View Full Product Details