Product Details
- SNP ID
-
rs200484321
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:52807672 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TACTCCTCGCCCTCCAGCAGTTTGC[A/G]GTAGGTGGCGATCTCGATGTCCAAG
- Phenotype
-
MIM: 123940
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KRT4
PubMed Links
Gene Details
- Gene
- KRT4
- Gene Name
- keratin 4
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_002272.3 |
1376 |
Missense Mutation |
CGC,TGC |
R440C |
NP_002263.3 |
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