Product Details
- SNP ID
-
rs200871858
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:40863727 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCTTTTCAATGAACCAGGCTTCAGC[G/T]TCCTTCCGATTCTGCTCAGCGATGG
- Phenotype
-
MIM: 601687
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
KRT12
PubMed Links
Gene Details
- Gene
- KRT12
- Gene Name
- keratin 12
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000223.3 |
969 |
Missense Mutation |
GAA,GAC |
E315D |
NP_000214.1 |
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