Product Details

SNP ID
rs149896952
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184373025 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGTGAGGACTAGAGAGGTTCTGC[C/T]GGGGACAGCTGTGGTGGGTGGGGCC
Phenotype
MIM: 603475 MIM: 606023 MIM: 600044
Polymorphism
C/T, Transition 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_000460.3 829 Missense Mutation AGC,GGC S184G NP_000451.1
NM_001177597.2 829 Missense Mutation AGC,GGC S180G NP_001171068.1
NM_001177598.2 829 Missense Mutation CAG,CGG Q178R NP_001171069.1
NM_001289997.1 829 Intron NP_001276926.1
NM_001289998.1 829 Missense Mutation AGC,GGC S184G NP_001276927.1
NM_001290003.1 829 Missense Mutation AGC,GGC S324G NP_001276932.1
NM_001290022.1 829 Missense Mutation AGC,GGC S180G NP_001276951.1
NM_001290026.1 829 Missense Mutation CAG,CGG Q178R NP_001276955.1
NM_001290027.1 829 Intron NP_001276956.1
NM_001290028.1 829 Missense Mutation AGC,GGC S184G NP_001276957.1
XM_017007107.1 829 Intron XP_016862596.1

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