Product Details

SNP ID
rs202166253
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184372996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCAGAAGTCCTGTTTGGGAGCTC[A/G]TTCAGTGTGAGGACTAGAGAGGTTC
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_000460.3 858 Silent Mutation AAC,AAT N193N NP_000451.1
NM_001177597.2 858 Silent Mutation AAC,AAT N189N NP_001171068.1
NM_001177598.2 858 Nonsense Mutation CGA,TGA R188* NP_001171069.1
NM_001289997.1 858 Intron NP_001276926.1
NM_001289998.1 858 Silent Mutation AAC,AAT N193N NP_001276927.1
NM_001290003.1 858 Silent Mutation AAC,AAT N333N NP_001276932.1
NM_001290022.1 858 Silent Mutation AAC,AAT N189N NP_001276951.1
NM_001290026.1 858 Nonsense Mutation CGA,TGA R188* NP_001276955.1
NM_001290027.1 858 Intron NP_001276956.1
NM_001290028.1 858 Silent Mutation AAC,AAT N193N NP_001276957.1
XM_017007107.1 858 Intron XP_016862596.1

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