Product Details
- SNP ID
-
rs201811328
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.11:118616118 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTGGCTCCAGAGCACTGCTACATC[A/G]AGAACCTGCGGGGCACCCTCACCCT
- Phenotype
-
MIM: 612834
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PHLDB1
PubMed Links
Gene Details
- Gene
- PHLDB1
- Gene Name
- pleckstrin homology like domain family B member 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001144758.2 |
1161 |
Missense Mutation |
AAG,GAG |
K88E |
NP_001138230.1 |
NM_001144759.2 |
1161 |
Missense Mutation |
AAG,GAG |
K88E |
NP_001138231.1 |
NM_015157.3 |
1161 |
Missense Mutation |
AAG,GAG |
K88E |
NP_055972.1 |
XM_005271468.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271525.1 |
XM_005271469.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271526.1 |
XM_005271470.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271527.1 |
XM_005271471.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271528.1 |
XM_005271472.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271529.1 |
XM_005271473.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271530.1 |
XM_005271474.4 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271531.1 |
XM_005271475.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005271532.1 |
XM_005277680.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_005277737.1 |
XM_006718796.3 |
1161 |
Missense Mutation |
AAG,GAG |
K88E |
XP_006718859.1 |
XM_006718797.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718860.1 |
XM_006718798.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718861.1 |
XM_006718799.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718862.1 |
XM_006718800.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718863.1 |
XM_006718801.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718864.1 |
XM_006718802.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718865.1 |
XM_006718803.3 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_006718866.1 |
XM_011542703.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541005.1 |
XM_011542704.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541006.1 |
XM_011542705.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541007.1 |
XM_011542706.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541008.1 |
XM_011542707.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541009.1 |
XM_011542708.2 |
1161 |
Missense Mutation |
AAG,GAG |
K88E |
XP_011541010.1 |
XM_011542709.2 |
1161 |
Missense Mutation |
AAG,GAG |
K88E |
XP_011541011.1 |
XM_011542710.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541012.1 |
XM_011542711.2 |
1161 |
Intron |
|
|
XP_011541013.1 |
XM_011542713.2 |
1161 |
Intron |
|
|
XP_011541015.1 |
XM_011542714.2 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_011541016.1 |
XM_011542715.2 |
1161 |
Intron |
|
|
XP_011541017.1 |
XM_017017407.1 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_016872896.1 |
XM_017017408.1 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_016872897.1 |
XM_017017409.1 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_016872898.1 |
XM_017017410.1 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_016872899.1 |
XM_017017411.1 |
1161 |
Missense Mutation |
AAG,GAG |
K134E |
XP_016872900.1 |
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