Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGGCGGCGGGGGCACCGCCTGCACG[G/A]GTCCGGCCGGCATGACTGCGACGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605595 | ||||||||||||||||||||
Literature Links: |
CCDC157 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 |
CCDC157 - coiled-coil domain containing 157 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017437.3 | 145 | UTR 5 | NP_001017437.2 | |||
NM_001318334.1 | 145 | UTR 5 | NP_001305263.1 | |||
NM_001318335.1 | 145 | UTR 5 | NP_001305264.1 | |||
XM_006724278.3 | 145 | Intron | XP_006724341.1 | |||
XM_006724279.3 | 145 | Intron | XP_006724342.1 | |||
XM_006724280.3 | 145 | Intron | XP_006724343.1 | |||
XM_011530263.2 | 145 | Intron | XP_011528565.1 | |||
XM_011530266.2 | 145 | Intron | XP_011528568.1 | |||
XM_011530267.2 | 145 | Intron | XP_011528569.1 | |||
XM_011530268.2 | 145 | Intron | XP_011528570.1 | |||
XM_011530269.2 | 145 | Intron | XP_011528571.1 | |||
XM_011530270.2 | 145 | Intron | XP_011528572.1 |
SF3A1 - splicing factor 3a subunit 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005877.5 | 145 | Missense Mutation | CCC,CTC | P,L 5 | NP_005868.1 |