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GGTGGACCTGGTTCCAGGAGTGGAA[A/G]AGACTAGGAGTCGAGCAGCTGCGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601074 MIM: 603846 MIM: 609538 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CELF1 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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CELF1 - CUGBP, Elav-like family member 1 | ||||||
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There are no transcripts associated with this gene. |
KBTBD4 - kelch repeat and BTB domain containing 4 | ||||||
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There are no transcripts associated with this gene. |
NDUFS3 - NADH:ubiquinone oxidoreductase core subunit S3 | ||||||
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There are no transcripts associated with this gene. |
PTPMT1 - protein tyrosine phosphatase, mitochondrial 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143984.1 | 457 | Intron | NP_001137456.1 | |||
NM_175732.2 | 457 | Silent Mutation | AAA,AAG | K,K 88 | NP_783859.1 |