Product Details

SNP ID
rs149030303
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:46755699 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCCAGCCCGTGGTGGTGGCAGC[C/T]GACACGCTCCCCTACCCGCCCCTGG
Phenotype
MIM: 606596 MIM: 109190 MIM: 614767
Polymorphism
C/T, Transition 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_001039885.2 395 Silent Mutation GCC,GCT A83A NP_001034974.1
NM_024301.4 395 Silent Mutation GCC,GCT A83A NP_077277.1
XM_005259247.2 395 Silent Mutation GCC,GCT A83A XP_005259304.1
XM_005259248.2 395 Silent Mutation GCC,GCT A83A XP_005259305.1
XM_005259249.4 395 Silent Mutation GCC,GCT A83A XP_005259306.1
XM_011527306.1 395 Silent Mutation GCC,GCT A83A XP_011525608.1
XM_011527307.1 395 Silent Mutation GCC,GCT A83A XP_011525609.1
XM_017027297.1 395 Silent Mutation GCC,GCT A83A 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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