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AACATATGATATTTGTGAAGTATCT[C/G]CTGGACCCCACTTGAATATGATCGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609386 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMC5 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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SMC5 - structural maintenance of chromosomes 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015110.3 | 328 | Missense Mutation | CCT,GCT | P,A 71 | NP_055925.2 | |
XM_005251837.1 | 328 | Missense Mutation | CCT,GCT | P,A 71 | XP_005251894.1 | |
XM_005251838.1 | 328 | Missense Mutation | CCT,GCT | P,A 71 | XP_005251895.1 | |
XM_005251839.1 | 328 | Missense Mutation | CCT,GCT | P,A 71 | XP_005251896.1 | |
XM_017014507.1 | 328 | Missense Mutation | CCT,GCT | P,A 71 | XP_016869996.1 | |
XM_017014508.1 | 328 | Missense Mutation | CCT,GCT | P,A 71 | XP_016869997.1 | |
XM_017014509.1 | 328 | UTR 5 | XP_016869998.1 | |||
XM_017014510.1 | 328 | Intron | XP_016869999.1 |
SMC5-AS1 - SMC5 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |