Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCTCATGCTTTGAGGTGTGAGCAA[C/G]ATAAACTGTCTAAAACGCTGGGAAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609387 | ||||||||||||||||||||
Literature Links: |
SMC6 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 3262 | Missense Mutation | ATC,ATG | I,M 1046 | NP_001135758.1 | |
NM_024624.5 | 3262 | Missense Mutation | ATC,ATG | I,M 1046 | NP_078900.1 | |
XM_011533107.2 | 3262 | Missense Mutation | ATC,ATG | I,M 1065 | XP_011531409.1 | |
XM_011533108.2 | 3262 | Missense Mutation | ATC,ATG | I,M 1038 | XP_011531410.1 | |
XM_017004913.1 | 3262 | Missense Mutation | ATC,ATG | I,M 1065 | XP_016860402.1 | |
XM_017004914.1 | 3262 | Missense Mutation | ATC,ATG | I,M 1065 | XP_016860403.1 | |
XM_017004915.1 | 3262 | Missense Mutation | ATC,ATG | I,M 1046 | XP_016860404.1 | |
XM_017004916.1 | 3262 | Missense Mutation | ATC,ATG | I,M 1019 | XP_016860405.1 |