Product Details

SNP ID
rs200529217
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:7176876 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCTCCAGCTGGGACTCTAGCGA[C/G]TTCATCTTTCTTCCCACATTGCCTC
Phenotype
MIM: 108360
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ASGR1 PubMed Links

Gene Details

Gene
ASGR1
Gene Name
asialoglycoprotein receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197216.2 616 Missense Mutation AAC,AAG N64K NP_001184145.1
NM_001671.4 616 Missense Mutation AAC,AAG N103K NP_001662.1
XM_011523861.2 616 Missense Mutation AAC,AAG N103K XP_011522163.1

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