Product Details

SNP ID

rs189686926

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:121341231 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTAGATGGCTGTGTTTTGCCCCTA[C/T]GATTCCTTGCAGCATATCTATGGGC

Phenotype

MIM: 137350 MIM: 133090

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GSN PubMed Links

Additional Information

For this assay, SNP(s) [rs41273438] 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

GSN

Gene Name

gelsolin

There are no transcripts associated with this gene.

Gene

STOM

Gene Name

stomatin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270526.1	864	UTR 3			NP_001257455.1
NM_001270527.1	864	Intron			NP_001257456.1
NM_004099.5	864	Missense Mutation	ATA,GTA	I280V	NP_004090.4
NM_198194.2	864	Missense Mutation	ATA,GTA	I115V	NP_937837.1

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