Product Details

SNP ID

rs138918236

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45287223 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGCACCAACACCCCACTGGGCT[A/C]AACGTTCCTACAAACAGAGGGTGGG

Phenotype

MIM: 611559

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

UPK3A PubMed Links

Additional Information

For this assay, SNP(s) [rs6006979] 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

UPK3A

Gene Name

uroplakin 3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167574.1	287	Intron			NP_001161046.1
NM_006953.3	287	Nonsense Mutation	TAA,TCA	*87S	NP_008884.1

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