Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTTCCTTGTAATTATACTTAAGAT[C/T]TTCAATTTCTTCAAAAAATGAAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610142 | ||||||||||||||||||||
Literature Links: |
C12orf29 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 |
C12orf29 - chromosome 12 open reading frame 29 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009894.2 | 8490 | Intron | NP_001009894.2 |
CEP290 - centrosomal protein 290 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_025114.3 | 8490 | Missense Mutation | AAT,GAT | N,D 2426 | NP_079390.3 | |
XM_011538756.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2716 | XP_011537058.1 | |
XM_011538757.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2716 | XP_011537059.1 | |
XM_011538758.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2715 | XP_011537060.1 | |
XM_011538759.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2713 | XP_011537061.1 | |
XM_011538760.1 | 8490 | Missense Mutation | AAT,GAT | N,D 2675 | XP_011537062.1 | |
XM_011538761.1 | 8490 | Missense Mutation | AAT,GAT | N,D 2661 | XP_011537063.1 | |
XM_011538762.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2460 | XP_011537064.1 | |
XM_011538763.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2429 | XP_011537065.1 | |
XM_011538764.2 | 8490 | Intron | XP_011537066.1 | |||
XM_011538765.2 | 8490 | Intron | XP_011537067.1 | |||
XM_011538766.2 | 8490 | Missense Mutation | AAT,GAT | N,D 2203 | XP_011537068.1 | |
XM_017019980.1 | 8490 | Missense Mutation | AAT,GAT | N,D 2672 | XP_016875469.1 | |
XM_017019981.1 | 8490 | Missense Mutation | AAT,GAT | N,D 2658 | XP_016875470.1 | |
XM_017019982.1 | 8490 | Intron | XP_016875471.1 | |||
XM_017019983.1 | 8490 | Missense Mutation | AAT,GAT | N,D 2422 | XP_016875472.1 |