Product Details

SNP ID
rs75259705
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:166734925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGATTTCAACTGTCATCAATCAA[A/T]TGTATACATCATGGTCATCACCACC
Phenotype
MIM: 607989
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
SPOCK3 PubMed Links
Additional Information
For this assay, SNP(s) [rs1057377] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
SPOCK3
Gene Name
sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040159.1 1334 Missense Mutation AAT,ATT N433I NP_001035249.1
NM_001204352.1 1334 Missense Mutation AAT,ATT N385I NP_001191281.1
NM_001204353.1 1334 Missense Mutation AAT,ATT N316I NP_001191282.1
NM_001204354.1 1334 Missense Mutation AAT,ATT N344I NP_001191283.1
NM_001204355.1 1334 Missense Mutation AAT,ATT N340I NP_001191284.1
NM_001204356.1 1334 Missense Mutation AAT,ATT N393I NP_001191285.1
NM_001204358.1 1334 Intron NP_001191287.1
NM_001251967.1 1334 Missense Mutation AAT,ATT N338I NP_001238896.1
NM_016950.2 1334 Missense Mutation AAT,ATT N436I NP_058646.2
XM_011532018.1 1334 Missense Mutation AAT,ATT N436I XP_011530320.1
XM_017008257.1 1334 Missense Mutation AAT,ATT N445I XP_016863746.1
XM_017008258.1 1334 Missense Mutation AAT,ATT N433I XP_016863747.1

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