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GTTGTCATCAGCTTGCGTGATCCCC[A/T]GTTCACTCAACCTTTTCTTCTTTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611027 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SHCBP1 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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SHCBP1 - SHC binding and spindle associated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324318.1 | 1836 | Missense Mutation | CAG,CTG | Q,L 598 | NP_001311247.1 | |
NM_001324319.1 | 1836 | Missense Mutation | CAG,CTG | Q,L 558 | NP_001311248.1 | |
NM_024745.4 | 1836 | Missense Mutation | CAG,CTG | Q,L 636 | NP_079021.3 | |
XM_011523335.2 | 1836 | Intron | XP_011521637.1 |