Product Details

SNP ID

rs144193548

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136367684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGCCTGAGCCTGCCCTCCACGG[C/T]CAGTAGCTGCGCCTCACACTGGAAC

Phenotype

MIM: 607212 MIM: 609491 MIM: 602777

Polymorphism

C/T, Transition 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	1388	Missense Mutation	ACC,GCC	T408A	NP_434700.2
NM_052814.3	1388	Missense Mutation	ACC,GCC	T408A	NP_434701.1

Gene

DNLZ

Gene Name

DNL-type zinc finger

There are no transcripts associated with this gene.

Gene

GPSM1

Gene Name

G-protein signaling modulator 1

There are no transcripts associated with this gene.

Gene

SNAPC4

Gene Name

small nuclear RNA activating complex polypeptide 4

There are no transcripts associated with this gene.

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