Product Details
- SNP ID
-
rs144269064
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:40863280 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCCAGGTTGCTGATGAGCTGCTGCA[A/C]CTGGGACAGCTGCGCGCAGTAATCG
- Phenotype
-
MIM: 601687
- Polymorphism
- A/C, 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 |
1183 |
Missense Mutation |
GTG,TTG |
V387L |
NP_000214.1 |
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