Product Details

SNP ID
rs78218036
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:125091938 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGAAATTGGGGTGCCACCAGAC[G/T]GAGACAGCTTGGACTACCAGGTAGG
Phenotype
MIM: 610657
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
KIAA0196 PubMed Links

Gene Details

Gene
KIAA0196
Gene Name
KIAA0196
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014846.3 70 Intron NP_055661.3
XM_005251120.3 70 Intron XP_005251177.1
XM_011517409.1 70 Intron XP_011515711.1
XM_017014113.1 70 Intron XP_016869602.1
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 70 UTR 5 NP_775956.1
XM_005250875.2 70 UTR 5 XP_005250932.1
XM_005250876.4 70 UTR 5 XP_005250933.1
XM_011516974.2 70 UTR 5 XP_011515276.1
XM_011516975.1 70 Intron XP_011515277.1
XM_017013330.1 70 Intron XP_016868819.1
XM_017013331.1 70 UTR 5 XP_016868820.1
XM_017013332.1 70 Intron XP_016868821.1
XM_017013333.1 70 UTR 5 XP_016868822.1
XM_017013334.1 70 Intron XP_016868823.1

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