Search Thermo Fisher Scientific
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AGAAGCTGTGGACAGTGCAGATGCC[C/T]GCAGCCATCCTGACCATGAACCTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 209901 | ||||||||||||||||||||
Literature Links: |
BBS1 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 |
BBS1 - Bardet-Biedl syndrome 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024649.4 | 993 | Silent Mutation | CCC,CCT | P,P 327 | NP_078925.3 |
ZDHHC24 - zinc finger DHHC-type containing 24 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207340.1 | 993 | Intron | NP_997223.1 | |||
XM_005273874.3 | 993 | Intron | XP_005273931.1 | |||
XM_011544893.2 | 993 | Intron | XP_011543195.1 | |||
XM_011544894.1 | 993 | Intron | XP_011543196.1 |