Product Details

SNP ID
rs148499454
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184372661 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGGTGGGTGGAAGAGGGAAGAGC[A/G]TATACTGTCCAGTAGGAGGATGGGT
Phenotype
MIM: 603475 MIM: 606023 MIM: 600044
Polymorphism
A/G, 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 1193 Missense Mutation ACG,ATG T305M NP_000451.1
NM_001177597.2 1193 Missense Mutation ACG,ATG T301M NP_001171068.1
NM_001177598.2 1193 Silent Mutation TAC,TAT Y299Y NP_001171069.1
NM_001289997.1 1193 Silent Mutation TAC,TAT Y266Y NP_001276926.1
NM_001289998.1 1193 Missense Mutation ACG,ATG T305M NP_001276927.1
NM_001290003.1 1193 Missense Mutation ACG,ATG T445M NP_001276932.1
NM_001290022.1 1193 Missense Mutation ACG,ATG T301M NP_001276951.1
NM_001290026.1 1193 Silent Mutation TAC,TAT Y299Y NP_001276955.1
NM_001290027.1 1193 Silent Mutation TAC,TAT Y266Y NP_001276956.1
NM_001290028.1 1193 Missense Mutation ACG,ATG T305M NP_001276957.1
XM_017007107.1 1193 Silent Mutation TAC,TAT Y402Y XP_016862596.1

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