Product Details

SNP ID

rs188700676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:46560194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAGGTTCATCAGGAGGCCTGTC[C/T]GCACCTGAAATAGAGCCCAGACAGA

Phenotype

MIM: 606411

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

OCSTAMP PubMed Links

Gene Details

Gene

OCSTAMP

Gene Name

osteoclast stimulatory transmembrane protein

There are no transcripts associated with this gene.

Gene

SLC13A3

Gene Name

solute carrier family 13 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011554.2	1504	Missense Mutation	CAG,CGG	Q499R	NP_001011554.1
NM_001193339.1	1504	Missense Mutation	CAG,CGG	Q496R	NP_001180268.1
NM_001193340.1	1504	Missense Mutation	CAG,CGG	Q464R	NP_001180269.1
NM_001193342.1	1504	Missense Mutation	CAG,CGG	Q448R	NP_001180271.1
NM_022829.5	1504	Missense Mutation	CAG,CGG	Q546R	NP_073740.2

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