Product Details
- SNP ID
-
rs139954107
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:52645219 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTCCCTTAGAGCCACCACCAGATC[C/T]GTATCTTCCTCCAGAACCACCGCCA
- Phenotype
-
MIM: 600194
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KRT2
PubMed Links
Gene Details
- Gene
- KRT2
- Gene Name
- keratin 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000423.2 |
1753 |
Missense Mutation |
AGA,GGA |
R574G |
NP_000414.2 |
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