Product Details

SNP ID

rs12241

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:47833422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTTAATAAAAATAAAAAAGGAA[A/C]CACATCGTACTTTTGACAATCATAG

Phenotype

MIM: 601366

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

SMAD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs79514034] 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

SMAD2

Gene Name

SMAD family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003652.3	10101	UTR 3			NP_001003652.1
NM_001135937.2	10101	UTR 3			NP_001129409.1
NM_005901.5	10101	UTR 3			NP_005892.1
XM_005258259.3	10101	UTR 3			XP_005258316.1
XM_006722451.3	10101	UTR 3			XP_006722514.1
XM_011525984.2	10101	UTR 3			XP_011524286.1
XM_011525985.2	10101	UTR 3			XP_011524287.1
XM_017025745.1	10101	UTR 3			XP_016881234.1
XM_017025746.1	10101	UTR 3			XP_016881235.1
XM_017025747.1	10101	UTR 3			XP_016881236.1
XM_017025748.1	10101	UTR 3			XP_016881237.1
XM_017025749.1	10101	Intron			XP_016881238.1
XM_017025750.1	10101	UTR 3			XP_016881239.1

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