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CTGGGCTGCAGTCCCTAGAGCGGGG[C/T]GTCATCAGTCCTCCACTTGCGGGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605427 | ||||||||||||||||||||
Literature Links: |
TRPV4 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 |
TRPV4 - transient receptor potential cation channel subfamily V member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177428.1 | 2503 | Missense Mutation | ACC,GCC | T,A 822 | NP_001170899.1 | |
NM_001177431.1 | 2503 | Missense Mutation | ACC,GCC | T,A 835 | NP_001170902.1 | |
NM_001177433.1 | 2503 | Missense Mutation | ACC,GCC | T,A 762 | NP_001170904.1 | |
NM_021625.4 | 2503 | Missense Mutation | ACC,GCC | T,A 869 | NP_067638.3 | |
NM_147204.2 | 2503 | Missense Mutation | ACC,GCC | T,A 809 | NP_671737.1 | |
XM_005253918.1 | 2503 | Missense Mutation | ACC,GCC | T,A 869 | XP_005253975.1 | |
XM_011538630.2 | 2503 | Missense Mutation | ACC,GCC | T,A 920 | XP_011536932.2 | |
XM_011538631.2 | 2503 | Missense Mutation | ACC,GCC | T,A 873 | XP_011536933.2 | |
XM_011538632.2 | 2503 | Missense Mutation | ACC,GCC | T,A 860 | XP_011536934.2 | |
XM_011538633.2 | 2503 | Missense Mutation | ACC,GCC | T,A 813 | XP_011536935.2 | |
XM_011538634.2 | 2503 | Intron | XP_011536936.2 | |||
XM_011538635.2 | 2503 | Intron | XP_011536937.1 | |||
XM_011538636.2 | 2503 | Intron | XP_011536938.1 | |||
XM_017019774.1 | 2503 | Missense Mutation | ACC,GCC | T,A 869 | XP_016875263.1 |