Product Details

SNP ID

rs150610606

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23322235 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGATGGAGGAAGAAGCTGAGAAG[C/T]TAAAGGAGCTACAGAACGAGGTAGA

Phenotype

MIM: 602279

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BCL2L2-PABPN1 PubMed Links

Gene Details

Gene

BCL2L2-PABPN1

Gene Name

BCL2L2-PABPN1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199864.1	716	Silent Mutation	CTA,TTA	L163L	NP_001186793.1

Gene

PABPN1

Gene Name

poly(A) binding protein nuclear 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004643.3	716	Silent Mutation	CTA,TTA	L136L	NP_004634.1

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