Product Details

SNP ID

rs192936347

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:90063701 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCTGCTCTGAGTCACTTGTATTC[A/G]GTAAATTTGGCGTTCCTGACAATTC

Phenotype

MIM: 609759

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PRDM7 PubMed Links

Additional Information

For this assay, SNP(s) [rs2078478,rs4264393] 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

PRDM7

Gene Name

PR domain 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098173.1	618	Missense Mutation	CCG,CTG	P140L	NP_001091643.1
XM_005256274.3	618	Missense Mutation	CCG,CTG	P140L	XP_005256331.1
XM_011522829.1	618	Missense Mutation	CCG,CTG	P140L	XP_011521131.1
XM_011522831.2	618	Intron			XP_011521133.1
XM_017022882.1	618	Intron			XP_016878371.1
XM_017022883.1	618	Intron			XP_016878372.1
XM_017022884.1	618	Intron			XP_016878373.1

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