Product Details

SNP ID

rs111416394

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4539524 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGCCTTTTTCCGTGCCAGCGCG[G/T]ACAGTGGTGATTTGCCCAAGACCCC

Phenotype

MIM: 604885 MIM: 612584

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MYBBP1A PubMed Links

Additional Information

For this assay, SNP(s) [rs73335853] 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

MYBBP1A

Gene Name

MYB binding protein 1a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105538.1	3940	Missense Mutation	TAC,TCC	Y1293S	NP_001099008.1
NM_014520.3	3940	Missense Mutation	TAC,TCC	Y1293S	NP_055335.2
XM_011523616.2	3940	Missense Mutation	TAC,TCC	Y1041S	XP_011521918.1

Gene

SPNS2

Gene Name

sphingolipid transporter 2

There are no transcripts associated with this gene.

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