Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGCTGGAGAAAGGTAAAGTTTGC[C/T]ATTGGGGCAGACGCAGAGTTCATAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608113 | ||||||||||||||||||||
Literature Links: |
SGCZ 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 |
SGCZ - sarcoglycan zeta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001322879.1 | 1525 | Missense Mutation | AGC,GGC | S,G 255 | NP_001309808.1 | |
NM_001322880.1 | 1525 | Missense Mutation | AGC,GGC | S,G 248 | NP_001309809.1 | |
NM_001322881.1 | 1525 | Missense Mutation | AGC,GGC | S,G 174 | NP_001309810.1 | |
NM_139167.3 | 1525 | Missense Mutation | AGC,GGC | S,G 289 | NP_631906.2 |