Product Details

SNP ID

rs191174298

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49118734 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTACCCTTAAGAGCGTCTGAGGGC[A/G]AAGGCCAAGTCCCTTCCTCCAGAGT

Phenotype

MIM: 612331 MIM: 603144

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C19orf73 PubMed Links

Additional Information

For this assay, SNP(s) [rs2232003] are located under a primer 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

C19orf73

Gene Name

chromosome 19 open reading frame 73

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018111.2	407	Missense Mutation	CGC,TGC	R97C	NP_060581.2

Gene

LIN7B

Gene Name

lin-7 homolog B, crumbs cell polarity complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308419.1	407	Intron			NP_001295348.1
NM_022165.2	407	Intron			NP_071448.1
XM_006723323.3	407	Intron			XP_006723386.1
XM_017027131.1	407	Intron			XP_016882620.1

Gene

PPFIA3

Gene Name

PTPRF interacting protein alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003660.3	407	Intron			NP_003651.1
XM_017027407.1	407	Intron			XP_016882896.1

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