Product Details

SNP ID

rs2230678

Assay Type

Functionally tested

NCBI dbSNP Submissions

66

Location

Chr.1:29148829 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCTCCTCTCTGCTTCTCTTCCTGC[T/C]CTTCCTCTTGTCCTTGCTCTTGCTG

Phenotype

MIM: 601940

Polymorphism

T/C, 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	1149	Missense Mutation	AGC,GGC	S356G	NP_005617.2
XM_011541951.2	1149	Missense Mutation	AGC,GGC	S326G	XP_011540253.1

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