Product Details

SNP ID
rs112243410
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46755537 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTATGTCTCGTGGCTGCAGCA[C/G]CAGCCTAGGAATTCCCGGGCCCGGG
Phenotype
MIM: 606596 MIM: 109190 MIM: 614767
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
FKRP PubMed Links

Gene Details

Gene
FKRP
Gene Name
fukutin related protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039885.2 233 Missense Mutation CAC,CAG H29Q NP_001034974.1
NM_024301.4 233 Missense Mutation CAC,CAG H29Q NP_077277.1
XM_005259247.2 233 Missense Mutation CAC,CAG H29Q XP_005259304.1
XM_005259248.2 233 Missense Mutation CAC,CAG H29Q XP_005259305.1
XM_005259249.4 233 Missense Mutation CAC,CAG H29Q XP_005259306.1
XM_011527306.1 233 Missense Mutation CAC,CAG H29Q XP_011525608.1
XM_011527307.1 233 Missense Mutation CAC,CAG H29Q XP_011525609.1
XM_017027297.1 233 Missense Mutation CAC,CAG H29Q XP_016882786.1
Gene
SLC1A5
Gene Name
solute carrier family 1 member 5
There are no transcripts associated with this gene.

Gene
STRN4
Gene Name
striatin 4
There are no transcripts associated with this gene.

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