Product Details

SNP ID
rs200129738
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:17666434 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAAAAGTTACCTCATGCTTTGAGG[A/T]GTGAGCAAGATAAACTGTCTAAAAC
Phenotype
MIM: 609387 MIM: 600817
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SMC6 PubMed Links

Gene Details

Gene
SMC6
Gene Name
structural maintenance of chromosomes 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142286.1 3271 Silent Mutation ACA,ACT T1049T NP_001135758.1
NM_024624.5 3271 Silent Mutation ACA,ACT T1049T NP_078900.1
XM_011533107.2 3271 Silent Mutation ACA,ACT T1068T XP_011531409.1
XM_011533108.2 3271 Silent Mutation ACA,ACT T1041T XP_011531410.1
XM_017004913.1 3271 Silent Mutation ACA,ACT T1068T XP_016860402.1
XM_017004914.1 3271 Silent Mutation ACA,ACT T1068T XP_016860403.1
XM_017004915.1 3271 Silent Mutation ACA,ACT T1049T XP_016860404.1
XM_017004916.1 3271 Silent Mutation ACA,ACT T1022T XP_016860405.1
Gene
VSNL1
Gene Name
visinin like 1
There are no transcripts associated with this gene.

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