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CATGCAGGGCCCACCCCGCAGCCTC[C/T]GCGCTGGGCTCAGCCTGGACGACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610795 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SORBS3 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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SORBS3 - sorbin and SH3 domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018003.2 | 774 | Intron | NP_001018003.1 | |||
NM_005775.4 | 774 | Missense Mutation | CGC,TGC | R,C 9 | NP_005766.3 | |
XM_005273371.1 | 774 | Intron | XP_005273428.1 | |||
XM_006716266.1 | 774 | Missense Mutation | CGC,TGC | R,C 63 | XP_006716329.1 | |
XM_006716268.2 | 774 | Missense Mutation | CGC,TGC | R,C 9 | XP_006716331.1 | |
XM_017012944.1 | 774 | Intron | XP_016868433.1 | |||
XM_017012945.1 | 774 | Intron | XP_016868434.1 | |||
XM_017012946.1 | 774 | Intron | XP_016868435.1 |