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TCCTGGCCAAGTGCCGGCCCATCGC[A/G]GTGCGCAGCGGAGACGCCTTCCACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615137 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
WBSCR17 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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WBSCR17 - Williams-Beuren syndrome chromosome region 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022479.2 | 485 | Silent Mutation | GCA,GCG | A,A 32 | NP_071924.1 | |
XM_011516467.2 | 485 | Silent Mutation | GCA,GCG | A,A 32 | XP_011514769.1 | |
XM_011516469.2 | 485 | Silent Mutation | GCA,GCG | A,A 32 | XP_011514771.1 | |
XM_017012521.1 | 485 | Silent Mutation | GCA,GCG | A,A 32 | XP_016868010.1 |