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Search Thermo Fisher Scientific
GGGGTGACTTTAGAATAATATCTGA[C/T]AGTATGCAAGGAATTCAGAGACAGC
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 |
---|---|---|
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 |
CCDC169-SOHLH2 - CCDC169-SOHLH2 readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198910.1 | 1639 | Missense Mutation | ATC,GTC | I,V 442 | NP_001185839.1 |
SOHLH2 - spermatogenesis and oogenesis specific basic helix-loop-helix 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282147.1 | 1639 | Intron | NP_001269076.1 | |||
NM_017826.2 | 1639 | Missense Mutation | ATC,GTC | I,V 365 | NP_060296.2 |