Product Details

SNP ID

rs200189320

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136365214 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGGGCTCCCCCCGCCGGCAAGG[C/T]AGCCTGGAAAGGAGAGTCGTGCCTG

Phenotype

MIM: 607212 MIM: 609491

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	1527	Missense Mutation	TAC,TGC	Y454C	NP_434700.2
NM_052814.3	1527	Missense Mutation	TAC,TGC	Y454C	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.

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