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GAACATGGAGGCAGATATAATCACA[A/G]ATCTTCGATGCAGGCTCAAAGAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616401 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPDL1 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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SPDL1 - spindle apparatus coiled-coil protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017785.4 | 196 | Missense Mutation | AAT,GAT | N,D 8 | NP_060255.3 | |
XM_011534585.1 | 196 | Missense Mutation | AAT,GAT | N,D 8 | XP_011532887.1 | |
XM_011534586.2 | 196 | Missense Mutation | AAT,GAT | N,D 8 | XP_011532888.1 | |
XM_011534587.2 | 196 | Missense Mutation | AAT,GAT | N,D 8 | XP_011532889.1 | |
XM_011534588.2 | 196 | Missense Mutation | AAT,GAT | N,D 8 | XP_011532890.1 | |
XM_011534589.2 | 196 | Missense Mutation | AAT,GAT | N,D 8 | XP_011532891.1 | |
XM_011534590.2 | 196 | Intron | XP_011532892.1 | |||
XM_017009601.1 | 196 | Missense Mutation | AAT,GAT | N,D 8 | XP_016865090.1 | |
XM_017009602.1 | 196 | Intron | XP_016865091.1 |