Product Details

SNP ID
rs147308690
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:29268814 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCAAGAGGATGGAGCTGGGCCAC[C/T]AGGCTGAGGTCTGGCCCTGTTCTCC
Phenotype
MIM: 608243
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM189A1 PubMed Links

Gene Details

Gene
FAM189A1
Gene Name
family with sequence similarity 189 member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015307.1 1003 Intron NP_056122.1
XM_011521407.2 1003 Intron XP_011519709.1
Gene
NSMCE3
Gene Name
NSE3 homolog, SMC5-SMC6 complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138704.3 1003 Missense Mutation NP_619649.1

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