Product Details

SNP ID
rs144851220
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:10118526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACACAGTTGGTCATAAATGACTG[A/T]CACGTGAATCCATACACAATTTGGA
Phenotype
MIM: 606264
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CLEC7A PubMed Links

Gene Details

Gene
CLEC7A
Gene Name
C-type lectin domain family 7 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022570.4 626 Missense Mutation ACA,TCA T180S NP_072092.2
NM_197947.2 626 Missense Mutation ACA,TCA T226S NP_922938.1
NM_197948.2 626 Missense Mutation GAC,GTC D186V NP_922939.1
NM_197949.2 626 Missense Mutation GAC,GTC D140V NP_922940.1
NM_197950.2 626 Missense Mutation ACA,TCA T147S NP_922941.1
NM_197954.2 626 Intron NP_922945.1
XM_006719135.3 626 UTR 3 XP_006719198.1
XM_017019822.1 626 Missense Mutation ACA,TCA T214S XP_016875311.1
XM_017019823.1 626 Missense Mutation ACA,TCA T168S XP_016875312.1

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