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TAGCATTCTCTGAGGCGGAGCTTGA[C/T]GGAACTTTAATGAGAAAGAAAACAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616066 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC169-SOHLH2 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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CCDC169-SOHLH2 - CCDC169-SOHLH2 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198910.1 | 1551 | Silent Mutation | CCA,CCG | P,P 412 | NP_001185839.1 |
SOHLH2 - spermatogenesis and oogenesis specific basic helix-loop-helix 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282147.1 | 1551 | Intron | NP_001269076.1 | |||
NM_017826.2 | 1551 | Silent Mutation | CCA,CCG | P,P 335 | NP_060296.2 |