Product Details

SNP ID
rs60207161
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184372595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTAGGGGTGGGCGTTGGAGCAGAA[A/G]GGTCAGGAAGCAGGGGGTGGAGCTG
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 1259 Missense Mutation CCT,CTT P327L NP_000451.1
NM_001177597.2 1259 Missense Mutation CCT,CTT P323L NP_001171068.1
NM_001177598.2 1259 UTR 3 NP_001171069.1
NM_001289997.1 1259 UTR 3 NP_001276926.1
NM_001289998.1 1259 Missense Mutation CCT,CTT P327L NP_001276927.1
NM_001290003.1 1259 Missense Mutation CCT,CTT P467L NP_001276932.1
NM_001290022.1 1259 Missense Mutation CCT,CTT P323L NP_001276951.1
NM_001290026.1 1259 UTR 3 NP_001276955.1
NM_001290027.1 1259 UTR 3 NP_001276956.1
NM_001290028.1 1259 Missense Mutation CCT,CTT P327L NP_001276957.1
XM_017007107.1 1259 UTR 3 XP_016862596.1

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