Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGCGTGACCTCCCCGCCGGCGGG[G/A]TGTGGCGACTACGTCGGGCCGCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605290 | ||||||||||||||||||||
Literature Links: |
OPA1 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 |
OPA1 - OPA1, mitochondrial dynamin like GTPase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015560.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_056375.2 | |
NM_130831.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570844.1 | |
NM_130832.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570845.1 | |
NM_130833.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570846.1 | |
NM_130834.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570847.2 | |
NM_130835.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570848.1 | |
NM_130836.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570849.2 | |
NM_130837.2 | 152 | Missense Mutation | ATG,GTG | M,V 1 | NP_570850.2 | |
XM_017006500.1 | 152 | UTR 5 | XP_016861989.1 |