Product Details

SNP ID

rs147579081

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58005469 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGTGGTGATCCTCTGCTTCTCCT[C/T]GGGGAGTAACTGCGACTCCTGCTGT

Phenotype

MIM: 600812

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SRSF1 PubMed Links

Gene Details

Gene

SRSF1

Gene Name

serine and arginine rich splicing factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001078166.1	1093	UTR 3			NP_001071634.1
NM_006924.4	1093	Silent Mutation	CCA,CCG	P228P	NP_008855.1

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