Product Details

SNP ID
rs146435536
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:125102400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTTCAGTGGTGTAGAGTCTGCT[C/G]TCTCCTCCTTGAAAAACTTCCAAGC
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
NSMCE2 PubMed Links

Gene Details

Gene
NSMCE2
Gene Name
NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173685.2 336 Missense Mutation CTC,GTC L24V NP_775956.1
XM_005250875.2 336 Missense Mutation CTC,GTC L24V XP_005250932.1
XM_005250876.4 336 Missense Mutation CTC,GTC L24V XP_005250933.1
XM_011516974.2 336 Missense Mutation CTC,GTC L24V XP_011515276.1
XM_011516975.1 336 Missense Mutation CTC,GTC L24V XP_011515277.1
XM_017013330.1 336 Intron XP_016868819.1
XM_017013331.1 336 Missense Mutation CTC,GTC L24V XP_016868820.1
XM_017013332.1 336 Intron XP_016868821.1
XM_017013333.1 336 UTR 5 XP_016868822.1
XM_017013334.1 336 Intron XP_016868823.1

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