Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGTTTGCAGATGCTTACCCTCAGC[A/G]TATCAAGTTCGAATCTTTAGAAATA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300170 | ||||||||||||||||||||
Literature Links: |
OFD1 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 |
OFD1 - OFD1, centriole and centriolar satellite protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003611.2 | 984 | Missense Mutation | CAT,CGT | H,R 190 | NP_003602.1 | |
XM_005274604.2 | 984 | Missense Mutation | CAT,CGT | H,R 190 | XP_005274661.1 | |
XM_005274606.3 | 984 | Missense Mutation | CAT,CGT | H,R 142 | XP_005274663.1 | |
XM_011545592.2 | 984 | Missense Mutation | CAT,CGT | H,R 126 | XP_011543894.1 | |
XM_011545594.2 | 984 | Intron | XP_011543896.1 | |||
XM_011545595.1 | 984 | Intron | XP_011543897.1 | |||
XM_011545597.1 | 984 | Missense Mutation | CAT,CGT | H,R 50 | XP_011543899.1 | |
XM_011545598.1 | 984 | Intron | XP_011543900.1 | |||
XM_017029909.1 | 984 | Intron | XP_016885398.1 | |||
XM_017029910.1 | 984 | Intron | XP_016885399.1 | |||
XM_017029911.1 | 984 | Intron | XP_016885400.1 |