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SNP ID

rs147081604

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37491830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGATCTCGTTCTGCACCAGCTCC[A/C]GCACACCCCGAGCACCCAGCTCCAG

Phenotype

MIM: 607209 MIM: 602577

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CARD10 PubMed Links

Gene Details

Gene

CARD10

Gene Name

caspase recruitment domain family member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014550.3	2792	Missense Mutation	CGG,CTG	R930L	NP_055365.2

Gene

MFNG

Gene Name

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

There are no transcripts associated with this gene.

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