Product Details

SNP ID

rs817343

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63975807 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCCCATCCGCTGCAGCTTCTC[C/T]GCATTCAGCCGCAGCAGTGCCCGGC

Phenotype

MIM: 613979

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRPF6 PubMed Links

Gene Details

Gene

PRPF6

Gene Name

pre-mRNA processing factor 6

There are no transcripts associated with this gene.

Gene

SAMD10

Gene Name

sterile alpha motif domain containing 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080621.4	646	Silent Mutation	GCA,GCG	A157A	NP_542188.1
XM_005260199.4	646	Silent Mutation	GCA,GCG	A196A	XP_005260256.1
XM_006723705.3	646	Silent Mutation	GCA,GCG	A163A	XP_006723768.1
XM_011528565.2	646	Silent Mutation	GCA,GCG	A361A	XP_011526867.1
XM_017027671.1	646	Silent Mutation	GCA,GCG	A157A	XP_016883160.1

Gene

ZNF512B

Gene Name

zinc finger protein 512B

There are no transcripts associated with this gene.

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