Product Details

SNP ID

rs149351367

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:29148453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTAGATCTAGATCGGGAGGGCGAT[C/G]TGGAAGCAGACCTGGATCTAGACTT

Phenotype

MIM: 601940

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SRSF4 PubMed Links

Gene Details

Gene

SRSF4

Gene Name

serine and arginine rich splicing factor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005626.4	1525	Missense Mutation	ACA,AGA	T481R	NP_005617.2
XM_011541951.2	1525	Missense Mutation	ACA,AGA	T451R	XP_011540253.1

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