Product Details

SNP ID

rs12992563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:197392440 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTCCAATATACATCTCTGACTT[A/T]CCGGGCTGGGTGAAACAGACCCTAA

Phenotype

MIM: 605590

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SF3B1 PubMed Links

Gene Details

Gene

SF3B1

Gene Name

splicing factor 3b subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005526.2	3872	Intron			NP_001005526.1
NM_001308824.1	3872	Intron			NP_001295753.1
NM_012433.3	3872	Nonsense Mutation	AAA,TAA	K1260*	NP_036565.2

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