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AGCTTTCTTAACAGGAAGCATCTCC[A/C]ACTTCTCCAGAGCCTCTGCTCCAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C2orf78 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 |
C2orf78 - chromosome 2 open reading frame 78 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080474.1 | 317 | Missense Mutation | AAC,CAC | N,H 66 | NP_001073943.1 | |
XM_005264302.3 | 317 | Missense Mutation | AAC,CAC | N,H 66 | XP_005264359.1 |