Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGTTCCATCATAGCAGCAGCCTCC[A/G]AAGCACCTGCCCCCACCCTCAGGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300052 | ||||||||||||||||||||
Literature Links: |
DRP2 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 |
DRP2 - dystrophin related protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171184.1 | 622 | Intron | NP_001164655.1 | |||
NM_001939.2 | 622 | Missense Mutation | CAA,CGA | Q,R 32 | NP_001930.2 | |
XM_017029333.1 | 622 | Missense Mutation | CAA,CGA | Q,R 32 | XP_016884822.1 | |
XM_017029334.1 | 622 | UTR 5 | XP_016884823.1 |