Product Details

SNP ID
rs143774718
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:144291859 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGTATGGAGAACATGAAGCCAGT[C/T]CTGACAATGGGCAGAACGAATTCAG
Phenotype
MIM: 128240
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UTRN PubMed Links

Gene Details

Gene
UTRN
Gene Name
utrophin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007124.2 225 Missense Mutation CCT,TCT P11S NP_009055.2
XM_005267127.4 225 Intron XP_005267184.1
XM_005267130.2 225 Missense Mutation CCT,TCT P11S XP_005267187.1
XM_005267133.2 225 Intron XP_005267190.1
XM_006715560.3 225 Intron XP_006715623.1
XM_011536101.2 225 Silent Mutation GTC,GTT V7V XP_011534403.1
XM_011536102.2 225 Silent Mutation GTC,GTT V7V XP_011534404.1
XM_011536106.2 225 Missense Mutation CCT,TCT P11S XP_011534408.1
XM_011536107.2 225 Intron XP_011534409.1
XM_011536109.2 225 Intron XP_011534411.1
XM_017011243.1 225 Silent Mutation GTC,GTT V7V XP_016866732.1
XM_017011244.1 225 Silent Mutation GTC,GTT V7V XP_016866733.1
XM_017011245.1 225 Silent Mutation GTC,GTT V7V XP_016866734.1

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