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TGGGGGCAAAGCCCGGCCCAAACCC[A/G]GCTCCACATTAAGCTCTTCCGATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300383 MIM: 311040 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFP 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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CFP - complement factor properdin | ||||||
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There are no transcripts associated with this gene. |
ELK1 - ELK1, ETS transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114123.2 | 929 | Missense Mutation | CCG,CTG | P,L 238 | NP_001107595.1 | |
NM_001257168.1 | 929 | Intron | NP_001244097.1 | |||
NM_005229.4 | 929 | Missense Mutation | CCG,CTG | P,L 238 | NP_005220.2 | |
XM_017029339.1 | 929 | Missense Mutation | CCG,CTG | P,L 238 | XP_016884828.1 |