Product Details

SNP ID
rs147111779
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:222202134 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCCCCGGTGAGAGGGGAGAGCGC[A/G]TAATCAGTCTGGGGCTGATGAGGTA
Phenotype
MIM: 606597
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PAX3 PubMed Links

Gene Details

Gene
PAX3
Gene Name
paired box 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000438.5 1611 Intron NP_000429.2
NM_001127366.2 1611 Silent Mutation TAC,TAT Y409Y NP_001120838.1
NM_013942.4 1611 Intron NP_039230.1
NM_181457.3 1611 Silent Mutation TAC,TAT Y410Y NP_852122.1
NM_181458.3 1611 Silent Mutation TAC,TAT Y410Y NP_852123.1
NM_181459.3 1611 Silent Mutation TAC,TAT Y410Y NP_852124.1
NM_181460.3 1611 Intron NP_852125.1
NM_181461.3 1611 Intron NP_852126.1

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