Product Details

SNP ID
rs1920128
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184380405 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGCCGGCCCGCGGCGCCGGCCC[A/C]GAGCCCCCCGTGCTGCCCATCCGTT
Phenotype
MIM: 603475 MIM: 600044
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CHRD PubMed Links

Gene Details

Gene
CHRD
Gene Name
chordin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304472.1 333 Silent Mutation CCA,CCC P29P NP_001291401.1
NM_001304473.1 333 UTR 5 NP_001291402.1
NM_001304474.1 333 UTR 5 NP_001291403.1
NM_003741.3 333 Silent Mutation CCA,CCC P29P NP_003732.2
XM_011513254.1 333 Silent Mutation CCA,CCC P29P XP_011511556.1
XM_011513256.1 333 Intron XP_011511558.1
XM_017007388.1 333 Silent Mutation CCA,CCC P29P XP_016862877.1
XM_017007389.1 333 Silent Mutation CCA,CCC P29P XP_016862878.1
XM_017007390.1 333 Silent Mutation CCA,CCC P29P XP_016862879.1
XM_017007391.1 333 Silent Mutation CCA,CCC P29P XP_016862880.1
XM_017007392.1 333 Silent Mutation CCA,CCC P29P XP_016862881.1
XM_017007393.1 333 Silent Mutation CCA,CCC P29P XP_016862882.1
XM_017007394.1 333 Intron XP_016862883.1
Gene
THPO
Gene Name
thrombopoietin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000460.3 333 Intron NP_000451.1
NM_001177597.2 333 Intron NP_001171068.1
NM_001177598.2 333 Intron NP_001171069.1
NM_001289997.1 333 Intron NP_001276926.1
NM_001289998.1 333 Intron NP_001276927.1
NM_001290003.1 333 Intron NP_001276932.1
NM_001290022.1 333 Intron NP_001276951.1
NM_001290026.1 333 Intron NP_001276955.1
NM_001290027.1 333 Intron NP_001276956.1
NM_001290028.1 333 Intron NP_001276957.1
XM_017007107.1 333 Intron XP_016862596.1

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