Product Details

SNP ID
rs201111470
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:53787270 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCGGGCGGGCCGGTGTTACTGGT[C/T]CTCTGCGGCCTCCTGGAGGCGTCCG
Phenotype
MIM: 605760 MIM: 611229
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ASB3 PubMed Links

Gene Details

Gene
ASB3
Gene Name
ankyrin repeat and SOCS box containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201965.1 340 Intron NP_001188894.1
NM_016115.4 340 Intron NP_057199.1
NM_145863.2 340 Intron NP_665862.1
Gene
ERLEC1
Gene Name
endoplasmic reticulum lectin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127397.2 340 Silent Mutation GTC,GTT V20V NP_001120869.1
NM_001127398.2 340 Silent Mutation GTC,GTT V20V NP_001120870.1
NM_015701.4 340 Silent Mutation GTC,GTT V20V NP_056516.2
XM_011532766.1 340 Silent Mutation GTC,GTT V20V 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_001164165.1 340 Intron NP_001157637.1

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