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AGCTCTCCCGAGAGACCCTTCGTCG[C/G]AGGTCCCGAGCAAGAGGAAGAATTC
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 |
---|---|---|
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 |
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 | 196 | Missense Mutation | CAG,GAG | Q,E 27 | NP_055925.2 | |
XM_005251837.1 | 196 | Missense Mutation | CAG,GAG | Q,E 27 | XP_005251894.1 | |
XM_005251838.1 | 196 | Missense Mutation | CAG,GAG | Q,E 27 | XP_005251895.1 | |
XM_005251839.1 | 196 | Missense Mutation | CAG,GAG | Q,E 27 | XP_005251896.1 | |
XM_017014507.1 | 196 | Missense Mutation | CAG,GAG | Q,E 27 | XP_016869996.1 | |
XM_017014508.1 | 196 | Missense Mutation | CAG,GAG | Q,E 27 | XP_016869997.1 | |
XM_017014509.1 | 196 | UTR 5 | XP_016869998.1 | |||
XM_017014510.1 | 196 | 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. |