Product Details
- SNP ID
-
rs139829422
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:65356455 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGGGATGTCTGGAACTTCTGCCGG[C/G]ATCCTGTTTCAGATTCGCCTCTTCC
- Phenotype
-
MIM: 602625
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
MAGI1
PubMed Links
Gene Details
- Gene
- MAGI1
- Gene Name
- membrane associated guanylate kinase, WW and PDZ domain containing 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001033057.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1438A |
NP_001028229.1 |
NM_004742.2 |
5019 |
Intron |
|
|
NP_004733.2 |
NM_015520.1 |
5019 |
UTR 3 |
|
|
NP_056335.1 |
XM_005265563.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1468A |
XP_005265620.1 |
XM_005265564.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1467A |
XP_005265621.1 |
XM_005265565.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1457A |
XP_005265622.1 |
XM_005265566.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1455A |
XP_005265623.1 |
XM_005265568.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1454A |
XP_005265625.1 |
XM_005265570.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1401A |
XP_005265627.1 |
XM_005265571.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1371A |
XP_005265628.1 |
XM_005265574.3 |
5019 |
UTR 3 |
|
|
XP_005265631.1 |
XM_006713407.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1469A |
XP_006713470.1 |
XM_006713408.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1468A |
XP_006713471.1 |
XM_006713409.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1468A |
XP_006713472.1 |
XM_006713410.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1455A |
XP_006713473.1 |
XM_006713411.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1441A |
XP_006713474.1 |
XM_006713412.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1439A |
XP_006713475.1 |
XM_006713414.3 |
5019 |
UTR 3 |
|
|
XP_006713477.1 |
XM_011534236.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1456A |
XP_011532538.1 |
XM_011534240.2 |
5019 |
Missense Mutation |
CCC,GCC |
P750A |
XP_011532542.1 |
XM_011534241.2 |
5019 |
Missense Mutation |
CCC,GCC |
P722A |
XP_011532543.1 |
XM_017007497.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1467A |
XP_016862986.1 |
XM_017007498.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1466A |
XP_016862987.1 |
XM_017007499.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1434A |
XP_016862988.1 |
XM_017007500.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1431A |
XP_016862989.1 |
XM_017007501.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1428A |
XP_016862990.1 |
XM_017007502.1 |
5019 |
UTR 3 |
|
|
XP_016862991.1 |
XM_017007503.1 |
5019 |
UTR 3 |
|
|
XP_016862992.1 |
XM_017007504.1 |
5019 |
UTR 3 |
|
|
XP_016862993.1 |
XM_017007505.1 |
5019 |
UTR 3 |
|
|
XP_016862994.1 |
XM_017007506.1 |
5019 |
UTR 3 |
|
|
XP_016862995.1 |
XM_017007507.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1200A |
XP_016862996.1 |
XM_017007508.1 |
5019 |
Missense Mutation |
CCC,GCC |
P1144A |
XP_016862997.1 |
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