Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAGACCTGCTGCCCACTGAGGAGG[A/G]GGCTGTTCTCACCAATGGGACAAGA
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001345.4 | 1886 | Intron | NP_001336.2 | |||
NM_201444.2 | 1886 | Intron | NP_958852.1 | |||
NM_201445.1 | 1886 | Intron | NP_958853.1 | |||
NM_201554.1 | 1886 | Intron | NP_963848.1 | |||
XM_005268688.2 | 1886 | Intron | XP_005268745.1 | |||
XM_005268689.2 | 1886 | Intron | XP_005268746.1 | |||
XM_005268690.2 | 1886 | Intron | XP_005268747.1 | |||
XM_011537991.2 | 1886 | Intron | XP_011536293.1 | |||
XM_011537993.2 | 1886 | Intron | XP_011536295.1 | |||
XM_011537995.2 | 1886 | Intron | XP_011536297.1 | |||
XM_017018900.1 | 1886 | Intron | XP_016874389.1 | |||
XM_017018901.1 | 1886 | Intron | XP_016874390.1 | |||
XM_017018902.1 | 1886 | Intron | XP_016874391.1 | |||
XM_017018903.1 | 1886 | Intron | XP_016874392.1 | |||
XM_017018904.1 | 1886 | Intron | XP_016874393.1 | |||
XM_017018905.1 | 1886 | Intron | XP_016874394.1 | |||
XM_017018906.1 | 1886 | Intron | XP_016874395.1 | |||
XM_017018907.1 | 1886 | Intron | XP_016874396.1 | |||
XM_017018908.1 | 1886 | Intron | XP_016874397.1 | |||
XM_017018909.1 | 1886 | Intron | XP_016874398.1 |
PMEL - premelanosome protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001200053.1 | 1886 | Missense Mutation | CCC,CTC | P,L 568 | NP_001186982.1 | |
NM_001200054.1 | 1886 | Missense Mutation | CCC,CTC | P,L 661 | NP_001186983.1 | |
NM_001320121.1 | 1886 | Missense Mutation | CCC,CTC | P,L 619 | NP_001307050.1 | |
NM_001320122.1 | 1886 | Missense Mutation | CCC,CTC | P,L 612 | NP_001307051.1 | |
NM_006928.4 | 1886 | Missense Mutation | CCC,CTC | P,L 654 | NP_008859.1 | |
XM_006719569.1 | 1886 | Missense Mutation | CCC,CTC | P,L 654 | XP_006719632.1 | |
XM_011538685.1 | 1886 | Missense Mutation | CCC,CTC | P,L 661 | XP_011536987.1 |