Product Details
- SNP ID
-
rs75841704
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.4:94455353 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGGGGTTTCCGGCTGCAGGGCGGTA[A/G]GGATTTCAACATGCCTCTGACAATC
- Phenotype
-
MIM: 605904
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PDLIM5
PubMed Links
Gene Details
- Gene
- PDLIM5
- Gene Name
- PDZ and LIM domain 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001011513.3 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_001011513.3 |
NM_001011515.2 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_001011515.1 |
NM_001011516.2 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_001011516.1 |
NM_001256425.1 |
216 |
UTR 5 |
|
|
NP_001243354.1 |
NM_001256426.1 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_001243355.1 |
NM_001256427.1 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_001243356.1 |
NM_001256428.1 |
216 |
UTR 5 |
|
|
NP_001243357.1 |
NM_001256429.1 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_001243358.1 |
NM_006457.4 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
NP_006448.4 |
XM_005262693.4 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_005262750.1 |
XM_005262695.4 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_005262752.1 |
XM_005262696.4 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_005262753.1 |
XM_005262698.4 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_005262755.1 |
XM_006714066.3 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_006714129.1 |
XM_006714068.3 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_006714131.1 |
XM_006714069.3 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_006714132.1 |
XM_006714070.3 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_006714133.1 |
XM_011531543.2 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_011529845.1 |
XM_017007657.1 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_016863146.1 |
XM_017007658.1 |
216 |
Missense Mutation |
AAG,AGG |
K22R |
XP_016863147.1 |
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