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GAGGGGATTGTGACTGTCGTGTCCT[C/T]GTCGACCTCCTTCTCCTGTCGCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609394 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPC24 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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SPC24 - SPC24, NDC80 kinetochore complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317031.1 | 462 | Missense Mutation | AAG,GAG | K,E 127 | NP_001303960.1 | |
NM_001317032.1 | 462 | Missense Mutation | AAG,GAG | K,E 127 | NP_001303961.1 | |
NM_001317033.1 | 462 | Missense Mutation | AAG,GAG | K,E 70 | NP_001303962.1 | |
NM_182513.3 | 462 | Missense Mutation | AAG,GAG | K,E 127 | NP_872319.1 | |
XM_005259753.3 | 462 | Missense Mutation | AAG,GAG | K,E 81 | XP_005259810.1 | |
XM_011527702.1 | 462 | Missense Mutation | AAG,GAG | K,E 127 | XP_011526004.1 |