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GCATCATTCACATCTCAGCATGCTG[A/G]GATTCAGTTTCTCACTAAGTTTATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607590 MIM: 602345 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BBS7 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BBS7 - Bardet-Biedl syndrome 7 | ||||||
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There are no transcripts associated with this gene. |
TRPC3 - transient receptor potential cation channel subfamily C member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130698.1 | 3172 | Missense Mutation | CCC,CTC | P,L 915 | NP_001124170.1 | |
NM_003305.2 | 3172 | Missense Mutation | CCC,CTC | P,L 842 | NP_003296.1 | |
XM_011532217.2 | 3172 | Missense Mutation | CCC,CTC | P,L 931 | XP_011530519.1 | |
XM_011532218.2 | 3172 | Missense Mutation | CCC,CTC | P,L 914 | XP_011530520.1 | |
XM_017008578.1 | 3172 | Missense Mutation | CCC,CTC | P,L 930 | XP_016864067.1 | |
XM_017008579.1 | 3172 | Missense Mutation | CCC,CTC | P,L 887 | XP_016864068.1 |