Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAAGAGCCATCGCCAAGATCCGGTC[A/T]TACATCCACATCAGGCCTGGCCAGC
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318716.1 | 694 | Intron | NP_001305645.1 | |||
NM_001318717.1 | 694 | Intron | NP_001305646.1 | |||
NM_001318718.1 | 694 | Intron | NP_001305647.1 | |||
NM_001318719.1 | 694 | Intron | NP_001305648.1 | |||
NM_001318720.1 | 694 | Intron | NP_001305649.1 | |||
NM_001318721.1 | 694 | Intron | NP_001305650.1 | |||
NM_001318722.1 | 694 | Intron | NP_001305651.1 | |||
NM_001318723.1 | 694 | Intron | NP_001305652.1 | |||
NM_001318724.1 | 694 | Intron | NP_001305653.1 | |||
NM_001318725.1 | 694 | Intron | NP_001305654.1 | |||
NM_016506.6 | 694 | Intron | NP_057590.3 | |||
NM_018095.5 | 694 | Intron | NP_060565.4 | |||
XM_017018009.1 | 694 | Intron | XP_016873498.1 |
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 | 694 | Missense Mutation | ATA,TTA | I,L 140 | NP_001137456.1 | |
NM_175732.2 | 694 | Silent Mutation | TCA,TCT | S,S 167 | NP_783859.1 |