Product Details
- SNP ID
-
rs200487383
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:49166189 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCCCGGACGACGCTCAAGAAGAC[C/T]CGGGGCAGCCCGGAGCCTAGTCCAG
- Phenotype
-
MIM: 300112
MIM: 300111
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MAGIX
PubMed Links
Gene Details
- Gene
- MAGIX
- Gene Name
- MAGI family member, X-linked
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001099681.2 |
863 |
Silent Mutation |
ACC,ACT |
T189T |
NP_001093151.2 |
NM_001099682.2 |
863 |
Silent Mutation |
ACC,ACT |
T184T |
NP_001093152.2 |
NM_024859.3 |
863 |
Silent Mutation |
ACC,ACT |
T265T |
NP_079135.3 |
XM_005278062.4 |
863 |
Silent Mutation |
ACC,ACT |
T250T |
XP_005278119.1 |
XM_005278063.4 |
863 |
Silent Mutation |
ACC,ACT |
T245T |
XP_005278120.1 |
XM_005278064.4 |
863 |
Silent Mutation |
ACC,ACT |
T206T |
XP_005278121.1 |
XM_005278065.3 |
863 |
Silent Mutation |
ACC,ACT |
T206T |
XP_005278122.1 |
XM_006724560.3 |
863 |
Silent Mutation |
ACC,ACT |
T260T |
XP_006724623.1 |
XM_011543985.2 |
863 |
Silent Mutation |
ACC,ACT |
T206T |
XP_011542287.1 |
XM_011543986.2 |
863 |
Silent Mutation |
ACC,ACT |
T206T |
XP_011542288.1 |
XM_011543987.2 |
863 |
Silent Mutation |
ACC,ACT |
T206T |
XP_011542289.1 |
- Gene
- PLP2
- Gene Name
- proteolipid protein 2
There are no transcripts associated with this gene.
- Gene
- PRICKLE3
- Gene Name
- prickle planar cell polarity protein 3
There are no transcripts associated with this gene.
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