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SNP ID: rs114542354
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:179678700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGCCGTCGGGATCACCTCGGGGTT[C/G]CGCTGCTTCTCCAGCAAGTGCATGC
Phenotype: MIM: 114217
Polymorphism: C/G, 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	70	Intron			NP_001019820.1
NM_001746.3	70	Intron			NP_001737.1
XM_011534664.1	70	Intron			XP_011532966.1
XM_011534665.2	70	UTR 5			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	70	Silent Mutation	CGC,CGG	R204R	NP_001157916.1
XM_017009726.1	70	Silent Mutation	CGC,CGG	R203R	XP_016865215.1

Gene: LOC105377763
Gene Name: uncharacterized LOC105377763

There are no transcripts associated with this gene.

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