Product Details

SNP ID

rs1108134

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:82759440 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAGAAAAACAGGGATGCACAAATT[C/T]GTGAAGCTGACAACTAAATGTATAT

Phenotype

MIM: 612675

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FSD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs1108135] 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

FSD2

Gene Name

fibronectin type III and SPRY domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007122.3	2341	Missense Mutation	AAA,GAA	K720E	NP_001007123.1
NM_001281805.1	2341	Missense Mutation	AAA,GAA	K675E	NP_001268734.1
NM_001281806.1	2341	Missense Mutation	AAA,GAA	K675E	NP_001268735.1
XM_005272425.4	2341	Missense Mutation	AAA,GAA	K720E	XP_005272482.1
XM_011521235.2	2341	Missense Mutation	AAA,GAA	K643E	XP_011519537.1
XM_017021924.1	2341	Intron			XP_016877413.1

Gene

SCARNA15

Gene Name

small Cajal body-specific RNA 15

There are no transcripts associated with this gene.

Gene

SNHG21

Gene Name

small nucleolar RNA host gene 21

There are no transcripts associated with this gene.

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