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GCTTTGGTTTGGGAGGCGTTGGTGT[A/C]TCTGCACAGGCATCTGAAACAAAAT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 300357 MIM: 400023 | |||||||||||||||||||||||
Literature Links: |
CRLF2 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 - 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 |
CRLF2 - cytokine receptor-like factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001012288.2 | 749 | Missense Mutation | GAG,GAT | E,D 108 | NP_001012288.2 | |
NM_022148.3 | 749 | Missense Mutation | GAG,GAT | E,D 220 | NP_071431.2 | |
XM_011546181.2 | 749 | Missense Mutation | GAG,GAT | E,D 219 | XP_011544483.1 | |
XM_011546182.2 | 749 | Missense Mutation | GAC,TAC | D,Y 196 | XP_011544484.1 |