Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TATTTCATTTCAGAGAACTCAATTT[C/T]CTGTATCTACTGAGTCTCAAAAACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 600374 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BBS4 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
|
BBS4 - Bardet-Biedl syndrome 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252678.1 | 367 | Intron | NP_001239607.1 | |||
NM_001320665.1 | 367 | Missense Mutation | CCT,TCT | P,S 13 | NP_001307594.1 | |
NM_033028.4 | 367 | Missense Mutation | CCT,TCT | P,S 13 | NP_149017.2 | |
XM_011521848.1 | 367 | UTR 5 | XP_011520150.1 | |||
XM_011521849.1 | 367 | UTR 5 | XP_011520151.1 | |||
XM_011521851.1 | 367 | UTR 5 | XP_011520153.1 | |||
XM_017022450.1 | 367 | Missense Mutation | CCT,TCT | P,S 21 | XP_016877939.1 | |
XM_017022451.1 | 367 | Intron | XP_016877940.1 | |||
XM_017022452.1 | 367 | UTR 5 | XP_016877941.1 | |||
XM_017022453.1 | 367 | UTR 5 | XP_016877942.1 | |||
XM_017022454.1 | 367 | Intron | XP_016877943.1 |
HIGD2B - HIG1 hypoxia inducible domain family member 2B | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |