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TGGGCCAGATCCCGCGGCACCTGGA[C/G]GAGAAGGACCTCAAGCCGCTCTTCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612680 | ||||||||||||||||||||
Literature Links: |
CELF5 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 |
CELF5 - CUGBP, Elav-like family member 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172673.1 | 207 | Silent Mutation | GAC,GAG | D,E 57 | NP_001166144.1 | |
NM_021938.3 | 207 | Silent Mutation | GAC,GAG | D,E 57 | NP_068757.2 | |
XM_006722832.1 | 207 | Missense Mutation | GAC,GAG | D,E 57 | XP_006722895.1 | |
XM_006722833.1 | 207 | Missense Mutation | GAC,GAG | D,E 57 | XP_006722896.1 | |
XM_006722836.2 | 207 | Intron | XP_006722899.1 | |||
XM_006722837.3 | 207 | Intron | XP_006722900.1 | |||
XM_006722838.3 | 207 | Intron | XP_006722901.1 | |||
XM_011528173.1 | 207 | Intron | XP_011526475.1 | |||
XM_011528174.2 | 207 | Intron | XP_011526476.1 | |||
XM_017027111.1 | 207 | Intron | XP_016882600.1 |