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CCGTCGCTTTTGCTGGAGCCGCCAC[A/C]ATGACAAAGCCATCAGCGCAGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604143 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ESPL1 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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ESPL1 - extra spindle pole bodies like 1, separase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012291.4 | 893 | Missense Mutation | AAT,CAT | N,H 268 | NP_036423.4 | |
XM_006719705.3 | 893 | Missense Mutation | AAT,CAT | N,H 268 | XP_006719768.1 | |
XM_011539024.2 | 893 | Missense Mutation | AAT,CAT | N,H 268 | XP_011537326.1 | |
XM_011539025.2 | 893 | Missense Mutation | AAT,CAT | N,H 268 | XP_011537327.1 | |
XM_017020253.1 | 893 | UTR 5 | XP_016875742.1 |