Product Details

SNP ID

rs185796187

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:20785330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGAGTGCGCGGAGGAGCCGCCGC[A/C]GCCGCCCCCGCCGCCGCCGCCGCTG

Phenotype

MIM: 608306

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

SP8 PubMed Links

Additional Information

For this assay, SNP(s) [rs372591893] 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

SP8

Gene Name

Sp8 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182700.5	674	Missense Mutation			NP_874359.2
NM_198956.3	674	Missense Mutation			NP_945194.1

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