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GGTGACCAGGCTGCGCGTCCTCCTT[G/T]CGGCAGCGCGTGGAGTGCGGCGTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610952 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFAP61 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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CRNKL1 - crooked neck pre-mRNA splicing factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278625.1 | 308 | Silent Mutation | CGA,CGC | R,R 80 | NP_001265554.1 | |
NM_001278626.1 | 308 | UTR 5 | NP_001265555.1 | |||
NM_001278627.1 | 308 | UTR 5 | NP_001265556.1 | |||
NM_001278628.1 | 308 | Intron | NP_001265557.1 | |||
NM_016652.5 | 308 | Silent Mutation | CGA,CGC | R,R 92 | NP_057736.4 |