Product Details

SNP ID
rs192316706
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:53795996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTTTGGAGCCACTATTTAAACAA[A/G]GCAGTTGTTCCTACAGAGTATGTAT
Phenotype
MIM: 605760 MIM: 611229
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ASB3 PubMed Links

Gene Details

Gene
ASB3
Gene Name
ankyrin repeat and SOCS box containing 3
There are no transcripts associated with this gene.

Gene
ERLEC1
Gene Name
endoplasmic reticulum lectin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127397.2 611 Missense Mutation AGC,GGC S111G NP_001120869.1
NM_001127398.2 611 Missense Mutation AGC,GGC S111G NP_001120870.1
NM_015701.4 611 Missense Mutation AGC,GGC S111G NP_056516.2
XM_011532766.1 611 Missense Mutation AGC,GGC S111G XP_011531068.1
Gene
GPR75-ASB3
Gene Name
GPR75-ASB3 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164165.1 611 Intron NP_001157637.1

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