Product Details
- SNP ID
-
rs200188533
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:52515135 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTGGAGTAGTAGCTTCCACTGCTA[A/C]CTCCGGCAAGACCTCCACCGAGGCC
- Phenotype
-
MIM: 148040
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
KRT5
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs11549950] are located under a probe 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
- KRT5
- Gene Name
- keratin 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000424.3 |
1743 |
Missense Mutation |
GGT,GTT |
G527V |
NP_000415.2 |
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