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GCCTGCTTGTCCTGCTGGTCCACGC[C/T]CGCGCCGCCCAGTACAGCAAAGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614708 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SCUBE3 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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SCUBE3 - signal peptide, CUB domain and EGF like domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303136.1 | 426 | Silent Mutation | GCC,GCT | A,A 18 | NP_001290065.1 | |
NM_152753.3 | 426 | Silent Mutation | GCC,GCT | A,A 18 | NP_689966.2 | |
XM_005248943.1 | 426 | Silent Mutation | GCC,GCT | A,A 18 | XP_005249000.1 | |
XM_005248947.1 | 426 | Silent Mutation | GCC,GCT | A,A 18 | XP_005249004.1 | |
XM_011514404.2 | 426 | Intron | XP_011512706.1 |