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SNP ID

rs147775123

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136363053 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGATGATATGGTGGTTCTGGCAGC[C/T]GGGGCAGGTCACAATGACCACGCCT

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	401	Intron			NP_434700.2
NM_052814.3	401	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	401	Missense Mutation	AGC,GGC	S102G	NP_001074318.1

Gene

GPSM1

Gene Name

G-protein signaling modulator 1

There are no transcripts associated with this gene.

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