Product Details

SNP ID: rs117614422
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:40252330 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTCTCCGCGAGGCGGCCACTGGGC[C/G]GTGGAGCCGCAGGCAGGTCCCCGCG
Phenotype: MIM: 608110
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: BUB1B-PAK6 PubMed Links

Gene Details

Gene: BUB1B-PAK6
Gene Name: BUB1B-PAK6 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128628.2	462	Intron			NP_001122100.1
NM_001128629.2	462	Intron			NP_001122101.1

Gene: C15orf56
Gene Name: chromosome 15 open reading frame 56

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039905.2	462	Silent Mutation	ACC,ACG	T147T	NP_001034994.1

Gene: PAK6
Gene Name: p21 (RAC1) activated kinase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276717.1	462	Intron			NP_001263646.1
NM_001276718.1	462	Intron			NP_001263647.1
NM_020168.5	462	Intron			NP_064553.1

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