Product Details
- SNP ID
-
rs191692991
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:91104254 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TCTGAGATGCGATTGCCATCCAAAC[A/G]CAAATGCTTGATCTTGGAGTAGGAT
- Phenotype
-
MIM: 600616
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LUM
PubMed Links
Gene Details
- Gene
- LUM
- Gene Name
- lumican
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_002345.3 |
1317 |
Missense Mutation |
CGT,TGT |
R310C |
NP_002336.1 |
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