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TGAGCTAAAATGGCTGAGGAGAGAG[C/T]CGCGACGGTGAGCGCCGAGATTCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600374 | ||||||||||||||||||||
Literature Links: |
BBS4 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 |
BBS4 - Bardet-Biedl syndrome 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252678.1 | 59 | UTR 5 | NP_001239607.1 | |||
NM_001320665.1 | 59 | Missense Mutation | GCC,GTC | A,V 6 | NP_001307594.1 | |
NM_033028.4 | 59 | Missense Mutation | GCC,GTC | A,V 6 | NP_149017.2 | |
XM_011521848.1 | 59 | UTR 5 | XP_011520150.1 | |||
XM_011521849.1 | 59 | UTR 5 | XP_011520151.1 | |||
XM_011521851.1 | 59 | UTR 5 | XP_011520153.1 | |||
XM_017022450.1 | 59 | UTR 5 | XP_016877939.1 | |||
XM_017022451.1 | 59 | UTR 5 | XP_016877940.1 | |||
XM_017022452.1 | 59 | UTR 5 | XP_016877941.1 | |||
XM_017022453.1 | 59 | UTR 5 | XP_016877942.1 | |||
XM_017022454.1 | 59 | UTR 5 | XP_016877943.1 |
HIGD2B - HIG1 hypoxia inducible domain family member 2B | ||||||
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There are no transcripts associated with this gene. |