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TTGCTGCACCCTTTTTGTCAATCTC[C/T]TGCTGGCTTTAGATTCTTCCACGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
FGFR3 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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FGFR3 - fibroblast growth factor receptor 3 | ||||||
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There are no transcripts associated with this gene. |
LETM1 - leucine zipper and EF-hand containing transmembrane protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012318.2 | 1819 | Missense Mutation | AAG,AGG | K,R 606 | NP_036450.1 | |
XM_006713884.1 | 1819 | Missense Mutation | AAG,AGG | K,R 605 | XP_006713947.1 | |
XM_017008187.1 | 1819 | Intron | XP_016863676.1 |