Product Details

SNP ID

rs200384490

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:44666757 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTGAAGCTCACGGGCACACACA[C/T]GGAGGACTGGCAGCCCACAGGCACA

Phenotype

MIM: 612920

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KRTAP12-2 PubMed Links

Additional Information

For this assay, SNP(s) [rs13046903] are located under a primer 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

KRTAP12-2

Gene Name

keratin associated protein 12-2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181684.2	171	Missense Mutation	ATG,GTG	M44V	NP_859012.1

Gene

KRTAP12-3

Gene Name

keratin associated protein 12-3

There are no transcripts associated with this gene.

Gene

TSPEAR

Gene Name

thrombospondin type laminin G domain and EAR repeats

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272037.1	171	Intron			NP_001258966.1
NM_144991.2	171	Intron			NP_659428.2

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