Product Details

SNP ID

rs199730490

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:95067689 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGATCTCGCTATAGGGGTTCTCGC[C/T]ATAGCCGGTCTCCCTACAGCCGATC

Phenotype

MIM: 603269

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SRSF8 PubMed Links

Gene Details

Gene

SRSF8

Gene Name

serine and arginine rich splicing factor 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032102.3	813	Missense Mutation	CAT,TAT	H155Y	NP_115285.1
XM_017017142.1	813	Missense Mutation	CAT,TAT	H155Y	XP_016872631.1

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