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CCTGAGAGCTGTGAGAAGGAGATGC[A/G]GCTGCTGCTGGCCCTGTTGGGGGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 134935 MIM: 605308 | ||||||||||||||||||||
Literature Links: |
FGFR4 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
FGFR4 - fibroblast growth factor receptor 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291980.1 | 172 | Missense Mutation | CAG,CGG | Q,R 2 | NP_001278909.1 | |
NM_002011.4 | 172 | Missense Mutation | CAG,CGG | Q,R 2 | NP_002002.3 | |
NM_022963.3 | 172 | Missense Mutation | CAG,CGG | Q,R 2 | NP_075252.2 | |
NM_213647.2 | 172 | Missense Mutation | CAG,CGG | Q,R 2 | NP_998812.1 | |
XM_005265838.3 | 172 | Missense Mutation | CAG,CGG | Q,R 2 | XP_005265895.1 | |
XM_011534464.2 | 172 | Missense Mutation | CAG,CGG | Q,R 33 | XP_011532766.1 | |
XM_011534465.2 | 172 | UTR 5 | XP_011532767.1 |
ZNF346 - zinc finger protein 346 | ||||||
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There are no transcripts associated with this gene. |