Product Details

SNP ID

rs200747180

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7928088 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGAGGTGCTTACGTCGACGTTGT[C/T]AATGTCTAGGATGCGAGAATGGAAC

Phenotype

MIM: 600135 MIM: 605076 MIM: 605058

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CTXN1 PubMed Links

Additional Information

For this assay, SNP(s) [rs11542187] are located under a probe and SNP(s) [rs34425383] 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

CTXN1

Gene Name

cortexin 1

There are no transcripts associated with this gene.

Gene

SNAPC2

Gene Name

small nuclear RNA activating complex polypeptide 2

There are no transcripts associated with this gene.

Gene

TGFBR3L

Gene Name

transforming growth factor beta receptor 3 like

There are no transcripts associated with this gene.

Gene

TIMM44

Gene Name

translocase of inner mitochondrial membrane 44

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006351.3	1289	Missense Mutation	AAC,GAC	N373D	NP_006342.2

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