Product Details

SNP ID

rs142205221

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4325456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAATGGGGGTCACGTAGTTCTCTT[C/G]CTGGTTCGGTAGTGGGGGCAGTGGG

Phenotype

MIM: 609828 MIM: 607881

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

FSD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs1138253] 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

FSD1

Gene Name

fibronectin type III and SPRY domain containing 1

There are no transcripts associated with this gene.

Gene

STAP2

Gene Name

signal transducing adaptor family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013841.1	1016	Missense Mutation	CAA,GAA	Q307E	NP_001013863.1
NM_017720.2	1016	Missense Mutation	CAA,GAA	Q307E	NP_060190.2
XM_011528123.1	1016	Missense Mutation	CAA,GAA	Q307E	XP_011526425.1

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