Product Details

SNP ID
rs118124522
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:23583379 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGCCATCTGATGGCTTGTCCAGC[A/G]CTGTGAGGCTCTCCCCAGCTTCCCT
Phenotype
MIM: 146770
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DRICH1 PubMed Links

Gene Details

Gene
DRICH1
Gene Name
aspartate rich 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016449.3 945 Intron NP_057533.2
XM_011530206.1 945 Missense Mutation GCG,GTG A262V XP_011528508.1
XM_011530207.2 945 Missense Mutation GCG,GTG A252V XP_011528509.1
XM_011530208.2 945 Missense Mutation GCG,GTG A252V XP_011528510.1
XM_011530209.2 945 Missense Mutation GCG,GTG A216V XP_011528511.1
XM_011530210.2 945 Missense Mutation GCG,GTG A196V XP_011528512.1
XM_017028813.1 945 Intron XP_016884302.1
Gene
IGLL1
Gene Name
immunoglobulin lambda like polypeptide 1
There are no transcripts associated with this gene.

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