Product Details

SNP ID

rs138237342

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:29148709 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGGGAGCGGTCAGTGTCTTCCT[C/T]CTTCTTCTTCTTGCTGCTGCCCGCC

Phenotype

MIM: 601940

Polymorphism

C/T, 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	1269	Missense Mutation	AAG,GAG	K396E	NP_005617.2
XM_011541951.2	1269	Missense Mutation	AAG,GAG	K366E	XP_011540253.1

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