Product Details

SNP ID
rs148509618
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:104032269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGCAATACTTCTTCTCCTTCTC[C/T]GCCCAGCATAGACTTGGTCACCTGA
Phenotype
MIM: 113811 MIM: 616563
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL17A1 PubMed Links

Gene Details

Gene
COL17A1
Gene Name
collagen type XVII alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000494.3 4629 Missense Mutation CAG,CGG Q1487R NP_000485.3
Gene
SLK
Gene Name
STE20 like kinase
There are no transcripts associated with this gene.

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