Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TATCAGACTTTCCCCTCACAGCATA[C/G]TCAGCTGCAATCAAAGCTAACTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604490 MIM: 608896 | ||||||||||||||||||||
Literature Links: |
SACS 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 |
SACS - sacsin molecular chaperone | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278055.1 | 13551 | Missense Mutation | GAC,GAG | D,E 4342 | NP_001264984.1 | |
NM_014363.5 | 13551 | Missense Mutation | GAC,GAG | D,E 4489 | NP_055178.3 | |
XM_005266338.2 | 13551 | Missense Mutation | GAC,GAG | D,E 4498 | XP_005266395.1 | |
XM_011535039.2 | 13551 | Missense Mutation | GAC,GAG | D,E 4495 | XP_011533341.1 | |
XM_017020539.1 | 13551 | Missense Mutation | GAC,GAG | D,E 4486 | XP_016876028.1 |
SGCG - sarcoglycan gamma | ||||||
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There are no transcripts associated with this gene. |