Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GATGATAAGACGTCCCCAACACTGG[A/C]CTCTGCTAATGATTTGCCTCGATCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 609414 | ||||||||||||||||||||
Literature Links: |
PIKFYVE PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
PIKFYVE - phosphoinositide kinase, FYVE-type zinc finger containing | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178000.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | NP_001171471.1 | |
NM_015040.3 | 207 | Missense Mutation | GAC,GCC | D,A 12 | NP_055855.2 | |
NM_152671.3 | 207 | Missense Mutation | GAC,GCC | D,A 12 | NP_689884.1 | |
XM_011510778.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509080.1 | |
XM_011510779.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509081.1 | |
XM_011510780.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509082.1 | |
XM_011510781.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509083.1 | |
XM_011510782.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509084.1 | |
XM_011510783.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509085.1 | |
XM_011510784.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509086.1 | |
XM_011510785.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509087.1 | |
XM_011510786.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509088.1 | |
XM_011510787.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509089.1 | |
XM_011510788.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509090.1 | |
XM_011510789.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509091.1 | |
XM_011510790.1 | 207 | UTR 5 | XP_011509092.1 | |||
XM_011510792.2 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_011509094.1 | |
XM_017003568.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_016859057.1 | |
XM_017003569.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_016859058.1 | |
XM_017003570.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_016859059.1 | |
XM_017003571.1 | 207 | Missense Mutation | GAC,GCC | D,A 12 | XP_016859060.1 | |
XM_017003572.1 | 207 | UTR 5 | XP_016859061.1 | |||
XM_017003573.1 | 207 | UTR 5 | XP_016859062.1 | |||
XM_017003574.1 | 207 | Intron | XP_016859063.1 |