Product Details

SNP ID
rs16910527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:10118534 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTGGTCATAAATGACTGACACGTGA[A/C]TCCATACACAATTTGGAGATGGGTT
Phenotype
MIM: 606264
Polymorphism
A/C, 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_022570.4 618 Missense Mutation AGT,ATT S177I NP_072092.2
NM_197947.2 618 Missense Mutation AGT,ATT S223I NP_922938.1
NM_197948.2 618 Missense Mutation GAG,GAT E183D NP_922939.1
NM_197949.2 618 Missense Mutation GAG,GAT E137D NP_922940.1
NM_197950.2 618 Missense Mutation AGT,ATT S144I NP_922941.1
NM_197954.2 618 Intron NP_922945.1
XM_006719135.3 618 UTR 3 XP_006719198.1
XM_017019822.1 618 Missense Mutation AGT,ATT S211I XP_016875311.1
XM_017019823.1 618 Missense Mutation AGT,ATT S165I XP_016875312.1

View Full Product Details