Product Details

SNP ID

rs199610627

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:25229020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCTTTTTCTTTTCCTCTTCCTTT[A/G]GTTCCCACTCCAAACGAGCTTTTTT

Phenotype

MIM: 607090

Polymorphism

A/G, 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	291	Missense Mutation	CCA,CTA	P79L	NP_056299.1
NM_207170.3	291	Intron			NP_997053.1

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