Product Details

SNP ID

rs116353040

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:5908839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCTGCCAGTGAGATTGCCACACT[C/T]CAGGAGCAGCTGATGACCTCAGAAG

Phenotype

MIM: 114212 MIM: 612638 MIM: 603327

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPS PubMed Links

Gene Details

Gene

CAPS

Gene Name

calcyphosine

There are no transcripts associated with this gene.

Gene

NDUFA11

Gene Name

NADH:ubiquinone oxidoreductase subunit A11

There are no transcripts associated with this gene.

Gene

RANBP3

Gene Name

RAN binding protein 3

There are no transcripts associated with this gene.

Gene

VMAC

Gene Name

vimentin-type intermediate filament associated coiled-coil protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001017921.3	257	Silent Mutation	CTC,CTT	L69L	NP_001017921.1

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