Product Details

SNP ID

rs144738378

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:5914474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTGTCCCGCGGGGCCTCGGGCA[C/T]CCAGGGCCTGGCCAGGTGAGCTGTC

Phenotype

MIM: 114212 MIM: 603327

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAPS PubMed Links

Gene Details

Gene

CAPS

Gene Name

calcyphosine

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004058.4	756	Missense Mutation	ACC,ATC	T109I	NP_004049.2
NM_080590.3	756	Missense Mutation	ACC,ATC	T109I	NP_542157.2

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

There are no transcripts associated with this gene.

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