Product Details

SNP ID

rs139734163

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:8094145 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAAGGCGGCAGCTACAGCAGGGG[A/G]CCAGGGTGGCGCCGCTAGGAAGGAG

Phenotype

MIM: 610509 MIM: 601197

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

RIC3 PubMed Links

Additional Information

For this assay, SNP(s) [rs4758289] 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

RIC3

Gene Name

RIC3 acetylcholine receptor chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135109.2	549	Intron			NP_001128581.1
NM_001206671.2	549	Intron			NP_001193600.1
NM_001206672.2	549	Intron			NP_001193601.1
NM_024557.4	549	Intron			NP_078833.3
XM_006718317.3	549	Intron			XP_006718380.1
XM_006718318.3	549	Intron			XP_006718381.1
XM_006718321.3	549	Intron			XP_006718384.1
XM_017018287.1	549	Intron			XP_016873776.1
XM_017018288.1	549	Intron			XP_016873777.1
XM_017018289.1	549	Intron			XP_016873778.1
XM_017018290.1	549	Intron			XP_016873779.1

Gene

TUB

Gene Name

tubby bipartite transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003320.4	549	Missense Mutation	GAC,GGC	D173G	NP_003311.2
NM_177972.2	549	Missense Mutation	GAC,GGC	D118G	NP_813977.1
XM_005253109.3	549	Missense Mutation	GAC,GGC	D160G	XP_005253166.1
XM_011520344.2	549	Missense Mutation	GAC,GGC	D130G	XP_011518646.1

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