Product Details

SNP ID

rs80276868

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4294630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCCCAGAACCAGGCACCCCACA[C/T]GATCGCAGCCACACCCATGCTTCCC

Phenotype

MIM: 609828 MIM: 610481 MIM: 614715

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FSD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs58237134] 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

FSD1

Gene Name

fibronectin type III and SPRY domain containing 1

There are no transcripts associated with this gene.

Gene

SHD

Gene Name

Src homology 2 domain containing transforming protein D

There are no transcripts associated with this gene.

Gene

TMIGD2

Gene Name

transmembrane and immunoglobulin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001169126.1	553	Missense Mutation			NP_001162597.1
NM_001308232.1	553	Missense Mutation			NP_001295161.1
NM_144615.2	553	Missense Mutation			NP_653216.2
XM_017026284.1	553	Missense Mutation			XP_016881773.1

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