Product Details

SNP ID
rs199831056
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:70264329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACATATGATATTTGTGAAGTATCT[C/G]CTGGACCCCACTTGAATATGATCGT
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_015110.3 328 Missense Mutation CCT,GCT P71A NP_055925.2
XM_005251837.1 328 Missense Mutation CCT,GCT P71A XP_005251894.1
XM_005251838.1 328 Missense Mutation CCT,GCT P71A XP_005251895.1
XM_005251839.1 328 Missense Mutation CCT,GCT P71A XP_005251896.1
XM_017014507.1 328 Missense Mutation CCT,GCT P71A XP_016869996.1
XM_017014508.1 328 Missense Mutation CCT,GCT P71A XP_016869997.1
XM_017014509.1 328 UTR 5 XP_016869998.1
XM_017014510.1 328 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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