Product Details

SNP ID

rs7948279

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:8093686 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATGCAGCCTTTGTTCTTTCTTCCC[C/T]GTCTTCAATGGCCATATCCTCTCAG

Phenotype

MIM: 610509 MIM: 601197

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RIC3 PubMed Links

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		Intron			NP_001128581.1
NM_001206671.2		Intron			NP_001193600.1
NM_001206672.2		Intron			NP_001193601.1
NM_024557.4		Intron			NP_078833.3
XM_006718317.3		Intron			XP_006718380.1
XM_006718318.3		Intron			XP_006718381.1
XM_006718321.3		Intron			XP_006718384.1
XM_017018287.1		Intron			XP_016873776.1
XM_017018288.1		Intron			XP_016873777.1
XM_017018289.1		Intron			XP_016873778.1
XM_017018290.1		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		Intron			NP_003311.2
NM_177972.2		Intron			NP_813977.1
XM_005253109.3		Intron			XP_005253166.1
XM_011520344.2		Intron			XP_011518646.1

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