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CTTCCTTTTGGGCTCTCCGGAGGCG[C/T]ATATCTGTTCCTCCTATTGGATGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600747 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C17orf82 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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C17orf82 - chromosome 17 open reading frame 82 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_203425.2 | 596 | Missense Mutation | GCA,GTA | A,V 124 | NP_982249.2 |
TBX2 - T-box 2 | ||||||
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There are no transcripts associated with this gene. |