Product Details
- SNP ID
-
rs201750033
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:52490004 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CTGGATCATGCGGTTGATCTCAGCA[A/G]TCTCCTGCTTGGTGTTGCGCAGGTC
- Phenotype
-
MIM: 148041
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KRT6A
PubMed Links
Gene Details
- Gene
- KRT6A
- Gene Name
- keratin 6A
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_005554.3 |
1351 |
Missense Mutation |
ACT,ATT |
T381I |
NP_005545.1 |
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