Product Details

SNP ID
rs10221907
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:17666443 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTCATGCTTTGAGGTGTGAGCAA[C/G]ATAAACTGTCTAAAACGCTGGGAAT
Phenotype
MIM: 609387
Polymorphism
C/G, 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 3262 Missense Mutation ATC,ATG I1046M NP_001135758.1
NM_024624.5 3262 Missense Mutation ATC,ATG I1046M NP_078900.1
XM_011533107.2 3262 Missense Mutation ATC,ATG I1065M XP_011531409.1
XM_011533108.2 3262 Missense Mutation ATC,ATG I1038M XP_011531410.1
XM_017004913.1 3262 Missense Mutation ATC,ATG I1065M XP_016860402.1
XM_017004914.1 3262 Missense Mutation ATC,ATG I1065M XP_016860403.1
XM_017004915.1 3262 Missense Mutation ATC,ATG I1046M XP_016860404.1
XM_017004916.1 3262 Missense Mutation ATC,ATG I1019M XP_016860405.1

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