Product Details

SNP ID

rs143383542

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:25227502 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTTTGATCTGCTTGGTCAACCGA[C/T]GATACTGGCGTAACTGGGCAGCAGC

Phenotype

MIM: 607090

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SYF2 PubMed Links

Gene Details

Gene

SYF2

Gene Name

SYF2 pre-mRNA splicing factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015484.4	336	Missense Mutation	CAT,CGT	H136R	NP_056299.1
NM_207170.3	336	Missense Mutation	CAT,CGT	H94R	NP_997053.1

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