Product Details

SNP ID
rs201680404
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184373036 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGAGAGGTTCTGCTGGGGACAGCT[G/T]TGGTGGGTGGGGCCCGCCTGACGCA
Phenotype
MIM: 603475 MIM: 606023 MIM: 600044
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CHRD PubMed Links

Gene Details

Gene
CHRD
Gene Name
chordin
There are no transcripts associated with this gene.

Gene
POLR2H
Gene Name
RNA polymerase II subunit H
There are no transcripts associated with this gene.

Gene
THPO
Gene Name
thrombopoietin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000460.3 818 Missense Mutation AAA,ACA K180T NP_000451.1
NM_001177597.2 818 Missense Mutation AAA,ACA K176T NP_001171068.1
NM_001177598.2 818 Missense Mutation CAA,CAC Q174H NP_001171069.1
NM_001289997.1 818 Intron NP_001276926.1
NM_001289998.1 818 Missense Mutation AAA,ACA K180T NP_001276927.1
NM_001290003.1 818 Missense Mutation AAA,ACA K320T NP_001276932.1
NM_001290022.1 818 Missense Mutation AAA,ACA K176T NP_001276951.1
NM_001290026.1 818 Missense Mutation CAA,CAC Q174H NP_001276955.1
NM_001290027.1 818 Intron NP_001276956.1
NM_001290028.1 818 Missense Mutation AAA,ACA K180T NP_001276957.1
XM_017007107.1 818 Intron XP_016862596.1

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