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GGAGGAGGAAGCGCCGCCCCCGCCT[C/T]GGGTAGTGAGCGAGGAGCATCTGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300922 | ||||||||||||||||||||
Literature Links: |
CHIC1 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 |
CHIC1 - cysteine rich hydrophobic domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039840.2 | 460 | Missense Mutation | CGG,TGG | R,W 74 | NP_001034929.2 | |
NM_001300884.1 | 460 | Missense Mutation | CGG,TGG | R,W 74 | NP_001287813.1 | |
XM_017029582.1 | 460 | Missense Mutation | CGG,TGG | R,W 74 | XP_016885071.1 | |
XM_017029583.1 | 460 | Intron | XP_016885072.1 | |||
XM_017029584.1 | 460 | Missense Mutation | CGG,TGG | R,W 74 | XP_016885073.1 |
MAP2K4P1 - mitogen-activated protein kinase kinase 4 pseudogene 1 | ||||||
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There are no transcripts associated with this gene. |