Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCGACTCCTTTGCCATGGTGTCTC[A/G]TGGGTTTATTTCAATAGTACCTCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 123691 | ||||||||||||||||||||
Literature Links: |
CRYZ PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CRYZ - crystallin zeta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130042.1 | 758 | Nonsense Mutation | CGA,TGA | R,* 257 | NP_001123514.1 | |
NM_001130043.1 | 758 | Nonsense Mutation | CGA,TGA | R,* 223 | NP_001123515.1 | |
NM_001134759.1 | 758 | Nonsense Mutation | CGA,TGA | R,* 120 | NP_001128231.1 | |
NM_001889.3 | 758 | Nonsense Mutation | CGA,TGA | R,* 257 | NP_001880.2 | |
XM_005270491.4 | 758 | Nonsense Mutation | CGA,TGA | R,* 120 | XP_005270548.1 | |
XM_011540747.1 | 758 | Nonsense Mutation | CGA,TGA | R,* 257 | XP_011539049.1 | |
XM_017000367.1 | 758 | Nonsense Mutation | CGA,TGA | R,* 223 | XP_016855856.1 | |
XM_017000368.1 | 758 | Nonsense Mutation | CGA,TGA | R,* 120 | XP_016855857.1 |