Product Details

SNP ID

rs35895100

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:5917633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTATGTGCTCCCGGTCGTCTGCC[C/T]GTCCCCTTCGTCACCAGCACCTGCA

Phenotype

MIM: 114212 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

RANBP3

Gene Name

RAN binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300865.1	1704	Missense Mutation	AGG,GGG	R488G	NP_001287794.1
NM_003624.2	1704	Missense Mutation	AGG,GGG	R556G	NP_003615.2
NM_007320.2	1704	Missense Mutation	AGG,GGG	R493G	NP_015559.2
NM_007322.2	1704	Missense Mutation	AGG,GGG	R561G	NP_015561.1
XM_006722928.1	1704	Missense Mutation	AGG,GGG	R280G	XP_006722991.1
XM_006722929.1	1704	Missense Mutation	AGG,GGG	R280G	XP_006722992.1
XM_011528391.1	1704	Missense Mutation	AGG,GGG	R280G	XP_011526693.1
XM_011528392.1	1704	Missense Mutation	AGG,GGG	R280G	XP_011526694.1
XM_011528393.1	1704	Missense Mutation	AGG,GGG	R280G	XP_011526695.1
XM_011528394.1	1704	Missense Mutation	AGG,GGG	R280G	XP_011526696.1
XM_017027405.1	1704	Missense Mutation	AGG,GGG	R433G	XP_016882894.1
XM_017027406.1	1704	Missense Mutation	AGG,GGG	R428G	XP_016882895.1

Gene

VMAC

Gene Name

vimentin-type intermediate filament associated coiled-coil protein

There are no transcripts associated with this gene.

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