Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGATCATGGTGTTGCTCTCTGCA[G/T]GATTAGCTGCTGGTTCTCCAGACAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614783 | ||||||||||||||||||||
Literature Links: |
POC1A 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 |
POC1A - POC1 centriolar protein A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161580.1 | 1001 | Missense Mutation | ATG,CTG | M,L 354 | NP_001155052.1 | |
NM_001161581.1 | 1001 | Missense Mutation | ATG,CTG | M,L 364 | NP_001155053.1 | |
NM_015426.4 | 1001 | Missense Mutation | ATG,CTG | M,L 402 | NP_056241.3 | |
XM_011533560.1 | 1001 | Missense Mutation | ATG,CTG | M,L 369 | XP_011531862.1 | |
XM_011533561.1 | 1001 | Missense Mutation | ATG,CTG | M,L 321 | XP_011531863.1 | |
XM_011533562.2 | 1001 | Intron | XP_011531864.1 | |||
XM_011533563.1 | 1001 | Intron | XP_011531865.1 | |||
XM_011533564.2 | 1001 | Intron | XP_011531866.1 | |||
XM_011533565.2 | 1001 | Intron | XP_011531867.1 | |||
XM_017006104.1 | 1001 | Missense Mutation | ATG,CTG | M,L 316 | XP_016861593.1 |