Product Details

SNP ID

rs139546801

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137243747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCATTCCTTCCAGTAGGCCCTCC[A/G]GGTGCTGTTGCCGAATGTCAGGGCG

Phenotype

MIM: 609826 MIM: 602660

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

C9orf173-AS1 PubMed Links

Additional Information

For this assay, SNP(s) [rs4073101] 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

C9orf173-AS1

Gene Name

C9orf173 antisense RNA 1

There are no transcripts associated with this gene.

Gene

FAM166A

Gene Name

family with sequence similarity 166 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001710.2	1824	Missense Mutation	CGG,TGG	R303W	NP_001001710.1
XM_006717108.2	1824	Missense Mutation	CGG,TGG	R287W	XP_006717171.2
XM_011518694.1	1824	Missense Mutation	CGG,TGG	R338W	XP_011516996.1
XM_011518695.1	1824	Missense Mutation	CGG,TGG	R300W	XP_011516997.1
XM_011518696.2	1824	Intron			XP_011516998.1
XM_011518697.1	1824	Intron			XP_011516999.1
XM_017014718.1	1824	Missense Mutation	CGG,TGG	R216W	XP_016870207.1

Gene

SLC34A3

Gene Name

solute carrier family 34 member 3

There are no transcripts associated with this gene.

Gene

STPG3

Gene Name

sperm-tail PG-rich repeat containing 3

There are no transcripts associated with this gene.

Gene

TUBB4B

Gene Name

tubulin beta 4B class IVb

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006088.5	1824	Intron			NP_006079.1

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