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TATCAACTCTGGTATGGACACAGCT[G/T]CTAGTGTTGCTTTGGATCTTGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
NSMCE2 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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NSMCE2 - NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173685.2 | 390 | Missense Mutation | GCT,TCT | A,S 42 | NP_775956.1 | |
XM_005250875.2 | 390 | Missense Mutation | GCT,TCT | A,S 42 | XP_005250932.1 | |
XM_005250876.4 | 390 | Missense Mutation | GCT,TCT | A,S 42 | XP_005250933.1 | |
XM_011516974.2 | 390 | Missense Mutation | GCT,TCT | A,S 42 | XP_011515276.1 | |
XM_011516975.1 | 390 | Missense Mutation | GCT,TCT | A,S 42 | XP_011515277.1 | |
XM_017013330.1 | 390 | Intron | XP_016868819.1 | |||
XM_017013331.1 | 390 | Missense Mutation | GCT,TCT | A,S 42 | XP_016868820.1 | |
XM_017013332.1 | 390 | Intron | XP_016868821.1 | |||
XM_017013333.1 | 390 | UTR 5 | XP_016868822.1 | |||
XM_017013334.1 | 390 | Intron | XP_016868823.1 |