Product Details

SNP ID

rs144943839

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136364346 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTTGTCGCTGCCCGTGGTGTTCT[C/G]CCGGTCCTCCTCCCCCTGCCGCCAT

Phenotype

MIM: 607212 MIM: 609491

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CARD9 PubMed Links

Gene Details

Gene

CARD9

Gene Name

caspase recruitment domain family member 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052813.4	1733	Missense Mutation	CAG,GAG	Q523E	NP_434700.2
NM_052814.3	1733	Intron			NP_434701.1

Gene

DNLZ

Gene Name

DNL-type zinc finger

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080849.2	1733	Intron			NP_001074318.1

Gene

GPSM1

Gene Name

G-protein signaling modulator 1

There are no transcripts associated with this gene.

View Full Product Details