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GTTTATGAATTAGAATGGCTAATTC[C/G]TCAGTTGCTTGGCTCTTGTCTTCCA
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 |
---|---|---|
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 |
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 | 3128 | Missense Mutation | GAC,GAG | D,E 900 | NP_001124170.1 | |
NM_003305.2 | 3128 | Missense Mutation | GAC,GAG | D,E 827 | NP_003296.1 | |
XM_011532217.2 | 3128 | Missense Mutation | GAC,GAG | D,E 916 | XP_011530519.1 | |
XM_011532218.2 | 3128 | Missense Mutation | GAC,GAG | D,E 899 | XP_011530520.1 | |
XM_017008578.1 | 3128 | Missense Mutation | GAC,GAG | D,E 915 | XP_016864067.1 | |
XM_017008579.1 | 3128 | Missense Mutation | GAC,GAG | D,E 872 | XP_016864068.1 |