Product Details

SNP ID

rs201489188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35563316 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAGGCTAGGCCAGGAGGGCCTC[A/G]AAGTAGCTGACCAGTCACCTGCCCA

Phenotype

MIM: 611053

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM166B PubMed Links

Gene Details

Gene

FAM166B

Gene Name

family with sequence similarity 166 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099951.3	207	Nonsense Mutation	CGA,TGA	R46*	NP_001093421.1
NM_001164310.2	207	Nonsense Mutation	CGA,TGA	R46*	NP_001157782.1
NM_001287238.1	207	Nonsense Mutation	CGA,TGA	R46*	NP_001274167.1
NM_001287239.1	207	Nonsense Mutation	CGA,TGA	R46*	NP_001274168.1
XM_011518028.2	207	Nonsense Mutation	CGA,TGA	R41*	XP_011516330.1

Gene

RUSC2

Gene Name

RUN and SH3 domain containing 2

There are no transcripts associated with this gene.

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