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GGGTTCCCTGCCTAAGCCTAAAGCT[G/T]TTGAACGGGTCTGTTGGTGCCTCTG
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 716 | UTR 5 | NP_001164655.1 | |||
NM_001939.2 | 716 | Silent Mutation | CTG,CTT | L,L 63 | NP_001930.2 | |
XM_017029333.1 | 716 | Silent Mutation | CTG,CTT | L,L 63 | XP_016884822.1 | |
XM_017029334.1 | 716 | UTR 5 | XP_016884823.1 |