Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACCTCGTCCGGGTTCGAGTTCTTG[C/T]TCAGTTCCACCACGCGGGGTACCAC
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 | |||
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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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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 | 2396 | Missense Mutation | AAC,AGC | N,S 786 | NP_001170899.1 | |
NM_001177431.1 | 2396 | Missense Mutation | AAC,AGC | N,S 799 | NP_001170902.1 | |
NM_001177433.1 | 2396 | Missense Mutation | AAC,AGC | N,S 726 | NP_001170904.1 | |
NM_021625.4 | 2396 | Missense Mutation | AAC,AGC | N,S 833 | NP_067638.3 | |
NM_147204.2 | 2396 | Missense Mutation | AAC,AGC | N,S 773 | NP_671737.1 | |
XM_005253918.1 | 2396 | Missense Mutation | AAC,AGC | N,S 833 | XP_005253975.1 | |
XM_011538630.2 | 2396 | Missense Mutation | AAC,AGC | N,S 884 | XP_011536932.2 | |
XM_011538631.2 | 2396 | Missense Mutation | AAC,AGC | N,S 837 | XP_011536933.2 | |
XM_011538632.2 | 2396 | Missense Mutation | AAC,AGC | N,S 824 | XP_011536934.2 | |
XM_011538633.2 | 2396 | Missense Mutation | AAC,AGC | N,S 777 | XP_011536935.2 | |
XM_011538634.2 | 2396 | Intron | XP_011536936.2 | |||
XM_011538635.2 | 2396 | Intron | XP_011536937.1 | |||
XM_011538636.2 | 2396 | Intron | XP_011536938.1 | |||
XM_017019774.1 | 2396 | Missense Mutation | AAC,AGC | N,S 833 | XP_016875263.1 |