Product Details
- SNP ID
-
rs2230413
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:48383170 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCCCCCTGAAACCCGGCAGGAGGC[A/G]GGATGGGGAGCACAAGAGGTGGGTT
- Phenotype
-
MIM: 131235
MIM: 608373
- Polymorphism
- A/G, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
KDELR1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs202246931] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Gene Details
- Gene
- KDELR1
- Gene Name
- KDEL endoplasmic reticulum protein retention receptor 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_006801.2 |
957 |
UTR 3 |
|
|
NP_006792.1 |
- Gene
- SYNGR4
- Gene Name
- synaptogyrin 4
There are no transcripts associated with this gene.
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