Product Details
- SNP ID
-
rs146718584
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:48981663 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTCCTGGGCCTGCTCGAGCTGATCC[C/T]GTACATCCTGTAGCTCCTCCTCCTT
- Phenotype
-
MIM: 300408
MIM: 300281
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GRIPAP1
PubMed Links
Gene Details
- Gene
- GRIPAP1
- Gene Name
- GRIP1 associated protein 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_020137.4 |
1788 |
Missense Mutation |
CAG,CGG |
Q569R |
NP_064522.3 |
| XM_011543935.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q579R |
XP_011542237.1 |
| XM_011543936.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q553R |
XP_011542238.1 |
| XM_011543937.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q503R |
XP_011542239.1 |
| XM_017029656.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q543R |
XP_016885145.1 |
| XM_017029657.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q503R |
XP_016885146.1 |
| XM_017029658.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q493R |
XP_016885147.1 |
| XM_017029659.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q493R |
XP_016885148.1 |
| XM_017029660.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q467R |
XP_016885149.1 |
| XM_017029661.1 |
1788 |
Missense Mutation |
CAG,CGG |
Q467R |
XP_016885150.1 |
- Gene
- KCND1
- Gene Name
- potassium voltage-gated channel subfamily D member 1
There are no transcripts associated with this gene.
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