Product Details

SNP ID
rs113096629
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:70259157 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTCTCCCGAGAGACCCTTCGTCG[C/G]AGGTCCCGAGCAAGAGGAAGAATTC
Phenotype
MIM: 609386
Polymorphism
C/G, Transversion 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_015110.3 196 Missense Mutation CAG,GAG Q27E NP_055925.2
XM_005251837.1 196 Missense Mutation CAG,GAG Q27E XP_005251894.1
XM_005251838.1 196 Missense Mutation CAG,GAG Q27E XP_005251895.1
XM_005251839.1 196 Missense Mutation CAG,GAG Q27E XP_005251896.1
XM_017014507.1 196 Missense Mutation CAG,GAG Q27E XP_016869996.1
XM_017014508.1 196 Missense Mutation CAG,GAG Q27E XP_016869997.1
XM_017014509.1 196 UTR 5 XP_016869998.1
XM_017014510.1 196 Intron XP_016869999.1
Gene
SMC5-AS1
Gene Name
SMC5 antisense RNA 1 (head to head)
There are no transcripts associated with this gene.

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