Product Details

SNP ID

rs113040772

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58003164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGCACAAAAGCCTATGTTGTCT[A/T]TGACCACCAGAAAATAAGCAGCATC

Phenotype

MIM: 600812

Polymorphism

A/T, Transversion 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	3398	UTR 3			NP_001071634.1
NM_006924.4	3398	UTR 3			NP_008855.1

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