Product Details

SNP ID

rs183238397

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:68284272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGAAATTCCCAGCTCTCCTCCTC[A/G]GTGGGAACACTGAAAAGCTAAAGAA

Phenotype

MIM: 612189

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PBLD PubMed Links

Additional Information

For this assay, SNP(s) [rs4142048] 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

PBLD

Gene Name

phenazine biosynthesis like protein domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033083.1	943	Intron			NP_001028255.1
NM_022129.3	943	Nonsense Mutation	CGA,TGA	R258*	NP_071412.2
XM_005270028.3	943	Nonsense Mutation	CGA,TGA	R258*	XP_005270085.1
XM_011540060.2	943	Silent Mutation	ACC,ACT	T249T	XP_011538362.1
XM_017016513.1	943	Silent Mutation	ACC,ACT	T249T	XP_016872002.1
XM_017016514.1	943	Intron			XP_016872003.1

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