Product Details

SNP ID
rs147882348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:10071415 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGCCCTTCTCTCACAGACACAA[C/T]GCTTCAATTCTTTGCAGTCCTTTGA
Phenotype
MIM: 606782 MIM: 612252
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CLEC1A PubMed Links

Gene Details

Gene
CLEC1A
Gene Name
C-type lectin domain family 1 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297748.1 946 Missense Mutation CAT,CGT H221R NP_001284677.1
NM_001297749.1 946 Missense Mutation CAT,CGT H162R NP_001284678.1
NM_001297750.1 946 Missense Mutation CAT,CGT H166R NP_001284679.1
NM_001297751.1 946 Missense Mutation CAT,CGT H166R NP_001284680.1
NM_016511.3 946 Missense Mutation CAT,CGT H254R NP_057595.2
XM_011520687.2 946 Missense Mutation CAT,CGT H281R XP_011518989.1
Gene
CLEC9A
Gene Name
C-type lectin domain family 9 member A
There are no transcripts associated with this gene.

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