Product Details

SNP ID
rs200990647
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46755970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCAGGTGCCTGGCCCTGAACGTC[A/T]GCCTGCGAGAGTGGACCGCCCGCTA
Phenotype
MIM: 606596 MIM: 109190 MIM: 614767
Polymorphism
A/T, 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_001039885.2 666 Missense Mutation AGC,TGC S174C NP_001034974.1
NM_024301.4 666 Missense Mutation AGC,TGC S174C NP_077277.1
XM_005259247.2 666 Missense Mutation AGC,TGC S174C XP_005259304.1
XM_005259248.2 666 Missense Mutation AGC,TGC S174C XP_005259305.1
XM_005259249.4 666 Missense Mutation AGC,TGC S174C XP_005259306.1
XM_011527306.1 666 Missense Mutation AGC,TGC S174C XP_011525608.1
XM_011527307.1 666 Missense Mutation AGC,TGC S174C XP_011525609.1
XM_017027297.1 666 Missense Mutation AGC,TGC S174C 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.

View Full Product Details