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AGTTCCAGCTCCACTTTCTACAATC[C/T]TCCAAGTGGCAGATCCAGGTCCCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CASS4 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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CASS4 - Cas scaffolding protein family member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164114.1 | 1470 | Missense Mutation | CCT,CTT | P,L 228 | NP_001157586.1 | |
NM_001164115.1 | 1470 | Intron | NP_001157587.1 | |||
NM_001164116.1 | 1470 | Missense Mutation | CCT,CTT | P,L 282 | NP_001157588.1 | |
NM_020356.3 | 1470 | Missense Mutation | CCT,CTT | P,L 282 | NP_065089.2 | |
XM_006723831.3 | 1470 | Missense Mutation | CCT,CTT | P,L 228 | XP_006723894.1 |