Product Details
- SNP ID
-
rs144969124
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:155481077 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCAACGTGGCCATAGTGAAGAGCC[A/G]TGCATGCCCCCTCTGGGATGCCCCG
- Phenotype
-
MIM: 612835
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
PLCH1
PubMed Links
Gene Details
- Gene
- PLCH1
- Gene Name
- phospholipase C eta 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001130960.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1658M |
NP_001124432.1 |
NM_001130961.1 |
5227 |
UTR 3 |
|
|
NP_001124433.1 |
NM_014996.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1620M |
NP_055811.1 |
XM_005247238.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1670M |
XP_005247295.1 |
XM_005247239.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1638M |
XP_005247296.1 |
XM_011512560.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1670M |
XP_011510862.1 |
XM_011512561.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1670M |
XP_011510863.1 |
XM_011512562.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1670M |
XP_011510864.1 |
XM_011512564.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1650M |
XP_011510866.1 |
XM_011512565.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1640M |
XP_011510867.1 |
XM_011512566.2 |
5227 |
Missense Mutation |
ACG,ATG |
T1640M |
XP_011510868.1 |
XM_011512567.1 |
5227 |
UTR 3 |
|
|
XP_011510869.1 |
XM_017005923.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1669M |
XP_016861412.1 |
XM_017005924.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1649M |
XP_016861413.1 |
XM_017005925.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1646M |
XP_016861414.1 |
XM_017005926.1 |
5227 |
Missense Mutation |
ACG,ATG |
T1640M |
XP_016861415.1 |
XM_017005927.1 |
5227 |
Intron |
|
|
XP_016861416.1 |
XM_017005928.1 |
5227 |
UTR 3 |
|
|
XP_016861417.1 |
XM_017005929.1 |
5227 |
UTR 3 |
|
|
XP_016861418.1 |
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