Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCTGCAGCAAGACCCAGCCCAGCC[C/T]GTGGTGGTGGCAGCCGACACGCTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606596 MIM: 109190 MIM: 614767 | ||||||||||||||||||||
Literature Links: |
FKRP 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 |
FKRP - fukutin related protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039885.2 | 380 | Silent Mutation | CCC,CCT | P,P 78 | NP_001034974.1 | |
NM_024301.4 | 380 | Silent Mutation | CCC,CCT | P,P 78 | NP_077277.1 | |
XM_005259247.2 | 380 | Silent Mutation | CCC,CCT | P,P 78 | XP_005259304.1 | |
XM_005259248.2 | 380 | Silent Mutation | CCC,CCT | P,P 78 | XP_005259305.1 | |
XM_005259249.4 | 380 | Silent Mutation | CCC,CCT | P,P 78 | XP_005259306.1 | |
XM_011527306.1 | 380 | Silent Mutation | CCC,CCT | P,P 78 | XP_011525608.1 | |
XM_011527307.1 | 380 | Silent Mutation | CCC,CCT | P,P 78 | XP_011525609.1 | |
XM_017027297.1 | 380 | Silent Mutation | CCC,CCT | P,P 78 | XP_016882786.1 |
SLC1A5 - solute carrier family 1 member 5 | ||||||
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There are no transcripts associated with this gene. |
STRN4 - striatin 4 | ||||||
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There are no transcripts associated with this gene. |