Product Details
- SNP ID
-
rs200461294
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:208271554 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GATGATAAGACGTCCCCAACACTGG[A/C]CTCTGCTAATGATTTGCCTCGATCT
- Phenotype
-
MIM: 609414
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
PIKFYVE
PubMed Links
Gene Details
- Gene
- PIKFYVE
- Gene Name
- phosphoinositide kinase, FYVE-type zinc finger containing
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001178000.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
NP_001171471.1 |
NM_015040.3 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
NP_055855.2 |
NM_152671.3 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
NP_689884.1 |
XM_011510778.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509080.1 |
XM_011510779.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509081.1 |
XM_011510780.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509082.1 |
XM_011510781.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509083.1 |
XM_011510782.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509084.1 |
XM_011510783.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509085.1 |
XM_011510784.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509086.1 |
XM_011510785.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509087.1 |
XM_011510786.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509088.1 |
XM_011510787.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509089.1 |
XM_011510788.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509090.1 |
XM_011510789.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509091.1 |
XM_011510790.1 |
207 |
UTR 5 |
|
|
XP_011509092.1 |
XM_011510792.2 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_011509094.1 |
XM_017003568.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_016859057.1 |
XM_017003569.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_016859058.1 |
XM_017003570.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
XP_016859059.1 |
XM_017003571.1 |
207 |
Missense Mutation |
GAC,GCC |
D12A |
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 |
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