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GAAGACCCTTGGGGAGCCGCGGCGG[C/T]GGGTCAGTGGCACAGGAAAGCTGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607744 MIM: 611389 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FRS3 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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FRS3 - fibroblast growth factor receptor substrate 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006653.4 | 2285 | Missense Mutation | CAC,CGC | H,R 392 | NP_006644.1 | |
XM_011514254.2 | 2285 | Missense Mutation | CAC,CGC | H,R 392 | XP_011512556.1 | |
XM_011514255.2 | 2285 | Missense Mutation | CAC,CGC | H,R 392 | XP_011512557.1 | |
XM_017010193.1 | 2285 | Missense Mutation | CAC,CGC | H,R 355 | XP_016865682.1 |
PRICKLE4 - prickle planar cell polarity protein 4 | ||||||
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There are no transcripts associated with this gene. |