Product Details
- SNP ID
-
rs186328239
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:40958842 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGGGAAGGCTCACATTTGGTGGCA[C/T]GTGGGTAACAGGGACGCCTAAGGAA
- Phenotype
-
MIM: 616678
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
KRT39
PubMed Links
Gene Details
- Gene
- KRT39
- Gene Name
- keratin 39
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_213656.3 |
1271 |
Missense Mutation |
CAT,CGT |
H412R |
NP_998821.3 |
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