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CAAGGCATGTTAAGTTACAAATCAC[C/G]TTTGGTCATCATCTTCTTCTTGAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609387 MIM: 600817 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMC6 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SMC6 - structural maintenance of chromosomes 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142286.1 | 3396 | Missense Mutation | ACG,AGG | T,R 1091 | NP_001135758.1 | |
NM_024624.5 | 3396 | Missense Mutation | ACG,AGG | T,R 1091 | NP_078900.1 | |
XM_011533107.2 | 3396 | Missense Mutation | ACG,AGG | T,R 1110 | XP_011531409.1 | |
XM_011533108.2 | 3396 | Missense Mutation | ACG,AGG | T,R 1083 | XP_011531410.1 | |
XM_017004913.1 | 3396 | Missense Mutation | ACG,AGG | T,R 1110 | XP_016860402.1 | |
XM_017004914.1 | 3396 | Missense Mutation | ACG,AGG | T,R 1110 | XP_016860403.1 | |
XM_017004915.1 | 3396 | Missense Mutation | ACG,AGG | T,R 1091 | XP_016860404.1 | |
XM_017004916.1 | 3396 | Missense Mutation | ACG,AGG | T,R 1064 | XP_016860405.1 |
VSNL1 - visinin like 1 | ||||||
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There are no transcripts associated with this gene. |