Product Details

SNP ID
rs201981106
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:132823110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCCTGCCGCTGCAGGAGCCGGA[G/T]TCGCTGCAGCAGGGAGGCCTTGAGC
Phenotype
MIM: 611179
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
LOC107984115 PubMed Links

Gene Details

Gene
LOC107984115
Gene Name
laforin-like
There are no transcripts associated with this gene.

Gene
SHROOM1
Gene Name
shroom family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172700.1 2328 Missense Mutation ATC,CTC I749L NP_001166171.1
NM_133456.2 2328 Missense Mutation ATC,CTC I744L NP_597713.2
XM_005271885.4 2328 Missense Mutation ATC,CTC I749L XP_005271942.1
XM_005271886.3 2328 Missense Mutation ATC,CTC I749L XP_005271943.1
XM_006714534.3 2328 Intron XP_006714597.1
XM_011543167.2 2328 Missense Mutation ATC,CTC I749L XP_011541469.1
Gene
SOWAHA
Gene Name
sosondowah ankyrin repeat domain family member A
There are no transcripts associated with this gene.

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