Product Details

SNP ID

rs111613609

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63984911 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGTGTTGTTTGCTTCTCAGTTTA[A/G]TGGCTATGCTGGGAGCCTCTTCTCA

Phenotype

MIM: 613979

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PRPF6 PubMed Links

Gene Details

Gene

PRPF6

Gene Name

pre-mRNA processing factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012469.3	413	Missense Mutation	AAT,AGT	N82S	NP_036601.2
XM_006723769.2	413	Missense Mutation	AAT,AGT	N82S	XP_006723832.1

Gene

SAMD10

Gene Name

sterile alpha motif domain containing 10

There are no transcripts associated with this gene.

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