Product Details

SNP ID
rs200425000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:121963238 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTTTGAATGGTGTTACACTTAC[A/G]ATCTTCTCGAAAATATGTCTGCAAC
Phenotype
MIM: 612987
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NSMCE4A PubMed Links

Gene Details

Gene
NSMCE4A
Gene Name
NSE4 homolog A, SMC5-SMC6 complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167865.1 907 Missense Mutation CCT,TCT P282S NP_001161337.1
NM_017615.2 907 Missense Mutation CCT,TCT P282S NP_060085.2
XM_005269929.4 907 Missense Mutation CCT,TCT P123S XP_005269986.1
XM_005269930.3 907 Missense Mutation CCT,TCT P123S XP_005269987.1
XM_011539910.2 907 Missense Mutation CCT,TCT P123S XP_011538212.1
XM_017016359.1 907 Missense Mutation CCT,TCT P123S XP_016871848.1

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