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TTGCGGGGCCGGATGGGCTTGAGGG[A/T]GAGCGGCGGCTGGGGCAGGCTGCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602419 | ||||||||||||||||||||
Literature Links: |
EGR3 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 |
EGR3 - early growth response 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199880.1 | 1063 | Missense Mutation | ACC,TCC | T,S 214 | NP_001186809.1 | |
NM_001199881.1 | 1063 | Missense Mutation | ACC,TCC | T,S 198 | NP_001186810.1 | |
NM_004430.2 | 1063 | Missense Mutation | ACC,TCC | T,S 252 | NP_004421.2 | |
XM_005273425.3 | 1063 | Missense Mutation | ACC,TCC | T,S 307 | XP_005273482.1 | |
XM_005273426.3 | 1063 | Missense Mutation | ACC,TCC | T,S 214 | XP_005273483.1 | |
XM_011544429.2 | 1063 | Missense Mutation | ACC,TCC | T,S 271 | XP_011542731.1 |