Product Details

SNP ID
rs7722251
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:36248650 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TATGAATTTTTATCCCCTAATCAGA[G/T]AATTGCTTAGGGGTCACAATCAAAG
Phenotype
MIM: 615787 MIM: 616391
Polymorphism
G/T, Transversion 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 2828 UTR 3 NP_001154901.1
NM_001323273.1 2828 Missense Mutation TTA,TTC L492F NP_001310202.1
NM_001323274.1 2828 Intron NP_001310203.1
NM_001323275.1 2828 UTR 3 NP_001310204.1
NM_001323276.1 2828 Intron NP_001310205.1
NM_001323277.1 2828 Intron NP_001310206.1
NM_001323278.1 2828 UTR 3 NP_001310207.1
NM_001323279.1 2828 UTR 3 NP_001310208.1
NM_001323280.1 2828 Intron NP_001310209.1
NM_145000.4 2828 UTR 3 NP_659437.3
XM_006714452.3 2828 Missense Mutation TTA,TTC L517F XP_006714515.1
XM_006714453.3 2828 Missense Mutation TTA,TTC L497F XP_006714516.1
XM_006714455.3 2828 Missense Mutation TTA,TTC L472F XP_006714518.1

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