Product Details

SNP ID
rs4987203
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12948749 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATGTCCATGGGCTATGAGCGAGAGC[A/G]GGTCGTGGCCGCCCTGAGAGCCAGC
Phenotype
MIM: 109091 MIM: 605162 MIM: 600061
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CALR PubMed Links

Gene Details

Gene
CALR
Gene Name
calreticulin
There are no transcripts associated with this gene.

Gene
GADD45GIP1
Gene Name
GADD45G interacting protein 1
There are no transcripts associated with this gene.

Gene
MIR6515
Gene Name
microRNA 6515
There are no transcripts associated with this gene.

Gene
RAD23A
Gene Name
RAD23 homolog A, nucleotide excision repair protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270362.1 671 Missense Mutation CAG,CGG Q179R NP_001257291.1
NM_001270363.1 671 Missense Mutation CAG,CGG Q179R NP_001257292.1
NM_005053.3 671 Missense Mutation CAG,CGG Q179R NP_005044.1

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