Product Details

SNP ID
rs201699098
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:46553471 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCTACTCTGCACCCACTTCATCA[G/T]CCCCACCACCACCACCACCACCATC
Phenotype
MIM: 610368
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
LRCH1 PubMed Links

Gene Details

Gene
LRCH1
Gene Name
leucine rich repeats and calponin homology domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164211.1 186 Missense Mutation CAG,CAT Q25H NP_001157683.1
NM_001164213.1 186 Missense Mutation CAG,CAT Q25H NP_001157685.1
NM_015116.2 186 Missense Mutation CAG,CAT Q25H NP_055931.1
XM_017020483.1 186 Missense Mutation CAG,CAT Q25H XP_016875972.1
XM_017020484.1 186 UTR 5 XP_016875973.1

View Full Product Details