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CACCCTTCAGTATCTGGTGCAGAAC[A/C]AGCTGGCAGGCTGGGCTGGGTAGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 125855 MIM: 155550 | ||||||||||||||||||||
Literature Links: |
DGKA 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 |
DGKA - diacylglycerol kinase alpha | ||||||
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There are no transcripts associated with this gene. |
PMEL - premelanosome protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001200053.1 | 1581 | Silent Mutation | CTG,CTT | L,L 466 | NP_001186982.1 | |
NM_001200054.1 | 1581 | Silent Mutation | CTG,CTT | L,L 552 | NP_001186983.1 | |
NM_001320121.1 | 1581 | Silent Mutation | CTG,CTT | L,L 510 | NP_001307050.1 | |
NM_001320122.1 | 1581 | Silent Mutation | CTG,CTT | L,L 510 | NP_001307051.1 | |
NM_006928.4 | 1581 | Silent Mutation | CTG,CTT | L,L 552 | NP_008859.1 | |
XM_006719569.1 | 1581 | Silent Mutation | CTG,CTT | L,L 552 | XP_006719632.1 | |
XM_011538685.1 | 1581 | Silent Mutation | CTG,CTT | L,L 552 | XP_011536987.1 |