Product Details

SNP ID

rs41302040

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:29148784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTGCTCCTCTCACTCTTGCTGC[A/G]GCTGCGACTGCGACTGCGGCTCTCC

Phenotype

MIM: 601940

Polymorphism

A/G, Transition 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	1194	Missense Mutation	CGC,TGC	R371C	NP_005617.2
XM_011541951.2	1194	Missense Mutation	CGC,TGC	R341C	XP_011540253.1

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