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CGGAAAGTTCAAAGTGAGTGGCAAG[G/T]TTCTGCTTAGCTGGAAGCTGGAAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C20orf78 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
C20orf78 - chromosome 20 open reading frame 78 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242671.2 | 508 | Intron | NP_001229600.1 | |||
NM_001302818.1 | 508 | Intron | NP_001289747.1 |
SCP2D1 - SCP2 sterol binding domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178483.2 | 508 | Missense Mutation | GTT,TTT | V,F 140 | NP_848578.1 |