Product Details

SNP ID
rs200212160
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:70259187 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGAGCAAGAGGAAGAATTCGGCC[C/T]CGCAGCTGCCGCTGTTGCAGTCGTC
Phenotype
MIM: 609386
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SMC5 PubMed Links

Gene Details

Gene
SMC5
Gene Name
structural maintenance of chromosomes 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015110.3 226 Missense Mutation CCG,TCG P37S NP_055925.2
XM_005251837.1 226 Missense Mutation CCG,TCG P37S XP_005251894.1
XM_005251838.1 226 Missense Mutation CCG,TCG P37S XP_005251895.1
XM_005251839.1 226 Missense Mutation CCG,TCG P37S XP_005251896.1
XM_017014507.1 226 Missense Mutation CCG,TCG P37S XP_016869996.1
XM_017014508.1 226 Missense Mutation CCG,TCG P37S XP_016869997.1
XM_017014509.1 226 UTR 5 XP_016869998.1
XM_017014510.1 226 Intron XP_016869999.1
Gene
SMC5-AS1
Gene Name
SMC5 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

View Full Product Details