Product Details

SNP ID

rs141789924

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:36251471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAAGACGATGATGTATTGCTGCA[C/T]ACAAATATGCTGTATCTTGGGCACT

Phenotype

MIM: 615787 MIM: 616391

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NADK2 PubMed Links

Gene Details

Gene

NADK2

Gene Name

NAD kinase 2, mitochondrial

There are no transcripts associated with this gene.

Gene

RANBP3L

Gene Name

RAN binding protein 3 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161429.2	1622	Missense Mutation	TAT,TGT	Y424C	NP_001154901.1
NM_001323273.1	1622	Missense Mutation	TAT,TGT	Y399C	NP_001310202.1
NM_001323274.1	1622	Missense Mutation	TAT,TGT	Y424C	NP_001310203.1
NM_001323275.1	1622	Missense Mutation	TAT,TGT	Y404C	NP_001310204.1
NM_001323276.1	1622	Missense Mutation	TAT,TGT	Y404C	NP_001310205.1
NM_001323277.1	1622	Missense Mutation	TAT,TGT	Y399C	NP_001310206.1
NM_001323278.1	1622	Missense Mutation	TAT,TGT	Y379C	NP_001310207.1
NM_001323279.1	1622	Missense Mutation	TAT,TGT	Y375C	NP_001310208.1
NM_001323280.1	1622	Missense Mutation	TAT,TGT	Y379C	NP_001310209.1
NM_145000.4	1622	Missense Mutation	TAT,TGT	Y399C	NP_659437.3
XM_006714452.3	1622	Missense Mutation	TAT,TGT	Y424C	XP_006714515.1
XM_006714453.3	1622	Missense Mutation	TAT,TGT	Y404C	XP_006714516.1
XM_006714455.3	1622	Missense Mutation	TAT,TGT	Y379C	XP_006714518.1

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