Product Details

SNP ID

rs1800298

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80101841 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCGTCCGCCCGTTGTTCAGCGAG[C/G]GAGGCTCTGCGCGTGCCGCAGCTGA

Phenotype

MIM: 613799 MIM: 606800

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CCDC40 PubMed Links

Additional Information

For this assay, SNP(s) [rs80020206] 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

CCDC40

Gene Name

coiled-coil domain containing 40

There are no transcripts associated with this gene.

Gene

GAA

Gene Name

glucosidase alpha, acid

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000152.4	122	UTR 5			NP_000143.2
NM_001079803.2	122	UTR 5			NP_001073271.1
NM_001079804.2	122	Intron			NP_001073272.1
XM_005257193.2	122	UTR 5			XP_005257250.1
XM_005257194.4	122	UTR 5			XP_005257251.1

Gene

MIR1268B

Gene Name

microRNA 1268b

There are no transcripts associated with this gene.

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