Product Details

SNP ID
rs201315560
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:18634371 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCTTCATCAATGGGCGACCCCTG[C/T]CTAACCACATCCGCCACAAGATAGT
Phenotype
MIM: 167410
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PAX7 PubMed Links

Gene Details

Gene
PAX7
Gene Name
paired box 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135254.1 752 Missense Mutation CCT,TCT P52S NP_001128726.1
NM_002584.2 752 Missense Mutation CCT,TCT P52S NP_002575.1
NM_013945.2 752 Missense Mutation CCT,TCT P52S NP_039236.1

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