Product Details

SNP ID

rs2427249

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:62148126 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACCCGAGAAGGGGAGCATGGGG[A/G]CCTGTCTTTACATCCGCAGGGATAG

Phenotype

MIM: 606607 MIM: 606472

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PSMA7 PubMed Links

Additional Information

For this assay, SNP(s) [rs114427846] 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

PSMA7

Gene Name

proteasome subunit alpha 7

There are no transcripts associated with this gene.

Gene

SS18L1

Gene Name

SS18L1, nBAF chromatin remodeling complex subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301778.1		Intron			NP_001288707.1
NM_198935.2		Intron			NP_945173.1
XM_005260389.3		Intron			XP_005260446.1
XM_005260391.1		Intron			XP_005260448.1
XM_011528764.2		Intron			XP_011527066.1
XM_011528767.1		Intron			XP_011527069.1
XM_017027784.1		Intron			XP_016883273.1

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