Product Details

SNP ID

hCV25618643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:45923021 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATTTTACAGCAGCATTAGAGGCT[C/T]TGCTGTGACTTGATGACGAAGTATT

Phenotype

MIM: 603668

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SCAF11 PubMed Links

Gene Details

Gene

SCAF11

Gene Name

SR-related CTD associated factor 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004719.2	4327	Missense Mutation	AAA,AGA	K1347R	NP_004710.2

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