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- SNP ID:
- rs146112514
- Gene
-
PLCD4 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.2: 218618746 - 218618746 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
TGTTGAGGAGGCCCAGATATGGATG[C/T]GAGGGCTCCAGCTGTTGGTGGATCT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605939
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Literature Links: |
PLCD4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| PLCD4 - phospholipase C delta 4 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_032726.3 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | NP_116115.1 | |
| XM_005246913.2 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | XP_005246970.1 | |
| XM_011512012.1 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | XP_011510314.1 | |
| XM_017005114.1 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | XP_016860603.1 | |
| XM_017005115.1 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | XP_016860604.1 | |
| XM_017005116.1 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | XP_016860605.1 | |
| XM_017005117.1 | 688 | Nonsense Mutation | CGA,TGA | R,* 117 | XP_016860606.1 | |
| XM_017005118.1 | 688 | Nonsense Mutation | CGA,TGA | R,* 13 | XP_016860607.1 | |
| XM_017005119.1 | 688 | Intron | XP_016860608.1 | |||
| XM_017005120.1 | 688 | Intron | XP_016860609.1 | |||
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