Product Details

SNP ID

rs141838653

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:42793143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTTGGTGGCAGCCACGTTTTTC[A/G]GGTATCGGTGAGACGGGAGTCATTT

Phenotype

MIM: 611448

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

BMS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs7898007] 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

BMS1

Gene Name

BMS1, ribosome biogenesis factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014753.3	1177	Missense Mutation	CAG,CGG	Q363R	NP_055568.3
XM_005271846.3	1177	Missense Mutation	CAG,CGG	Q363R	XP_005271903.1
XM_005271848.3	1177	Missense Mutation	CAG,CGG	Q363R	XP_005271905.1
XM_005271849.3	1177	Missense Mutation	CAG,CGG	Q363R	XP_005271906.1
XM_011540402.2	1177	Missense Mutation	CAG,CGG	Q363R	XP_011538704.1
XM_011540403.2	1177	Intron			XP_011538705.1

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