Product Details

SNP ID

rs116305151

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:179679095 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCAAAACTGCTGCAGCGTCTGCC[A/C]CAGGCGGCTGGCATGGCTCGTAGCC

Phenotype

MIM: 114217

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CANX PubMed Links

Gene Details

Gene

CANX

Gene Name

calnexin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024649.1	1126	Intron			NP_001019820.1
NM_001746.3	1126	Intron			NP_001737.1
XM_011534664.1	1126	Intron			XP_011532966.1
XM_011534665.2	1126	Intron			XP_011532967.1

Gene

CBY3

Gene Name

chibby family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164444.1	1126	Missense Mutation	GGG,TGG	G73W	NP_001157916.1
XM_017009726.1	1126	Missense Mutation	GGG,TGG	G72W	XP_016865215.1

Gene

LOC105377763

Gene Name

uncharacterized LOC105377763

There are no transcripts associated with this gene.

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