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AGACCATTCATACTACTTGAATTGG[C/T]GCTCTGATAGTAGTAGTACCATTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604764 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ZHX1 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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ZHX1 - zinc fingers and homeoboxes 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017926.2 | 2890 | Missense Mutation | ACC,GCC | T,A 729 | NP_001017926.1 | |
NM_007222.4 | 2890 | Missense Mutation | ACC,GCC | T,A 729 | NP_009153.3 |
ZHX1-C8orf76 - ZHX1-C8orf76 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204180.1 | 2890 | Intron | NP_001191109.1 |