Product Details
- SNP ID
-
rs150122652
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:184372723 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATATCCAGGCTGGAGGTTGGGTGG[C/T]AGGGAGCCTGTGTCTGATGTTCCTG
- 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 |
1131 |
Silent Mutation |
CTA,CTG |
L284L |
NP_000451.1 |
| NM_001177597.2 |
1131 |
Silent Mutation |
CTA,CTG |
L280L |
NP_001171068.1 |
| NM_001177598.2 |
1131 |
Missense Mutation |
ACC,GCC |
T279A |
NP_001171069.1 |
| NM_001289997.1 |
1131 |
Missense Mutation |
ACC,GCC |
T246A |
NP_001276926.1 |
| NM_001289998.1 |
1131 |
Silent Mutation |
CTA,CTG |
L284L |
NP_001276927.1 |
| NM_001290003.1 |
1131 |
Silent Mutation |
CTA,CTG |
L424L |
NP_001276932.1 |
| NM_001290022.1 |
1131 |
Silent Mutation |
CTA,CTG |
L280L |
NP_001276951.1 |
| NM_001290026.1 |
1131 |
Missense Mutation |
ACC,GCC |
T279A |
NP_001276955.1 |
| NM_001290027.1 |
1131 |
Missense Mutation |
ACC,GCC |
T246A |
NP_001276956.1 |
| NM_001290028.1 |
1131 |
Silent Mutation |
CTA,CTG |
L284L |
NP_001276957.1 |
| XM_017007107.1 |
1131 |
Missense Mutation |
ACC,GCC |
T382A |
XP_016862596.1 |
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