Product Details

SNP ID

rs77936519

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:150364812 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCGTTGGATCGAAAATTCCAGT[C/T]GGTAACCAACACCATGGAGTCCATT

Phenotype

MIM: 614695

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RPRD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs72696841] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

RPRD2

Gene Name

regulation of nuclear pre-mRNA domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297673.1	377	Missense Mutation	TCG,TTG	S33L	NP_001284602.1
NM_001297674.1	377	Missense Mutation	TCG,TTG	S33L	NP_001284603.1
NM_015203.4	377	Missense Mutation	TCG,TTG	S33L	NP_056018.2
XM_005245033.2	377	Missense Mutation	TCG,TTG	S33L	XP_005245090.1
XM_006711240.2	377	Missense Mutation	TCG,TTG	S33L	XP_006711303.1
XM_011509344.2	377	Missense Mutation	TCG,TTG	S33L	XP_011507646.1
XM_017000763.1	377	Missense Mutation	TCG,TTG	S33L	XP_016856252.1
XM_017000764.1	377	Intron			XP_016856253.1
XM_017000765.1	377	Missense Mutation	TCG,TTG	S33L	XP_016856254.1
XM_017000766.1	377	Missense Mutation	TCG,TTG	S33L	XP_016856255.1
XM_017000767.1	377	Missense Mutation	TCG,TTG	S33L	XP_016856256.1

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