Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTCCGGCTTGCCGCGGCCTGCCGC[A/G]ATGGAAACATCTATATTCTGAGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 209901 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BBS1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
BBS1 - Bardet-Biedl syndrome 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024649.4 | 817 | Missense Mutation | AAT,GAT | N,D 269 | NP_078925.3 |
ZDHHC24 - zinc finger DHHC-type containing 24 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207340.1 | 817 | Intron | NP_997223.1 | |||
XM_005273874.3 | 817 | Intron | XP_005273931.1 | |||
XM_011544893.2 | 817 | Intron | XP_011543195.1 | |||
XM_011544894.1 | 817 | Intron | XP_011543196.1 |