Product Details

SNP ID
rs150893619
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:66803089 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAAATTACAAATTGTTTGGTGA[C/T]TATTTTGATGACCTCTTGAGCAGCA
Phenotype
MIM: 603385
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NAE1 PubMed Links

Gene Details

Gene
NAE1
Gene Name
NEDD8 activating enzyme E1 subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018159.1 1414 Missense Mutation ATC,GTC I503V NP_001018169.1
NM_001018160.1 1414 Missense Mutation ATC,GTC I420V NP_001018170.1
NM_001286500.1 1414 Missense Mutation ATC,GTC I512V NP_001273429.1
NM_003905.3 1414 Missense Mutation ATC,GTC I509V NP_003896.1
XM_005256215.1 1414 Missense Mutation ATC,GTC I420V XP_005256272.1
XM_011523422.2 1414 Missense Mutation ATC,GTC I420V XP_011521724.1
Gene
TERB1
Gene Name
telomere repeat binding bouquet formation protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136505.1 1414 Intron NP_001129977.1
XM_011523004.2 1414 Intron XP_011521306.1
XM_011523005.2 1414 Intron XP_011521307.1
XM_011523006.2 1414 Intron XP_011521308.1
XM_011523007.2 1414 Intron XP_011521309.1
XM_011523008.2 1414 Intron XP_011521310.1
XM_011523009.2 1414 Intron XP_011521311.1
XM_011523010.2 1414 Intron XP_011521312.1
XM_011523011.2 1414 Intron XP_011521313.1
XM_011523012.2 1414 Intron XP_011521314.1
XM_011523014.2 1414 Intron XP_011521316.1
XM_011523015.2 1414 Intron XP_011521317.1
XM_011523016.2 1414 Intron XP_011521318.1
XM_011523017.1 1414 Intron XP_011521319.1
XM_011523018.1 1414 Intron XP_011521320.1
XM_011523020.1 1414 Intron XP_011521322.1
XM_017023157.1 1414 Intron XP_016878646.1
XM_017023158.1 1414 Intron XP_016878647.1
XM_017023159.1 1414 Intron XP_016878648.1

View Full Product Details