Product Details

SNP ID

rs144759983

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.5:40841477 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGATCCTGATTCTATCTTAGACA[C/T]GTTAACTTCTCGGAGGCTGATTTCT

Phenotype

MIM: 609986 MIM: 604181

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CARD6 PubMed Links

Additional Information

For this assay, SNP(s) [rs141244584] 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

CARD6

Gene Name

caspase recruitment domain family member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032587.3	281	Missense Mutation	ACG,ATG	T32M	NP_115976.2
XM_017009989.1	281	Missense Mutation	ACG,ATG	T32M	XP_016865478.1
XM_017009990.1	281	UTR 5			XP_016865479.1

Gene

RPL37

Gene Name

ribosomal protein L37

There are no transcripts associated with this gene.

Gene

SNORD72

Gene Name

small nucleolar RNA, C/D box 72

There are no transcripts associated with this gene.

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