Product Details

SNP ID

rs113799121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:12675603 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACCCAACAGAGCCCTGCCTGCT[C/G]ACCGCCATGGGAGGCAGCGTCCAGT

Phenotype

MIM: 600944 MIM: 609458 MIM: 616850

Polymorphism

C/G, Transversion 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	1293	Intron			NP_001193903.1
NM_001930.3	1293	Intron			NP_001921.1
NM_013406.2	1293	Intron			NP_037538.1
XM_011527770.1	1293	UTR 3			XP_011526072.1
XM_011527771.2	1293	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	1293	Silent Mutation	CTC,CTG	L293L	NP_001093207.1
NM_032332.3	1293	Silent Mutation	CTC,CTG	L293L	NP_115708.1

Gene

WDR83OS

Gene Name

WD repeat domain 83 opposite strand

There are no transcripts associated with this gene.

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