Product Details
- SNP ID
-
rs145811992
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:100892472 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTAGCCGTGGGGCACCCCCATCCAC[A/G]GGGGCCAGGAGAGCGTGGAAGCACG
- Phenotype
-
MIM: 100740
MIM: 614469
MIM: 611481
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACHE
PubMed Links
Gene Details
- Gene
- ACHE
- Gene Name
- acetylcholinesterase (Cartwright blood group)
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000665.4 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
NP_000656.1 |
| NM_001282449.1 |
1341 |
Missense Mutation |
CCG,CTG |
P384L |
NP_001269378.1 |
| NM_001302621.1 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
NP_001289550.1 |
| NM_001302622.1 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
NP_001289551.1 |
| NM_015831.2 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
NP_056646.1 |
| XM_006715995.2 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
XP_006716058.1 |
| XM_011516225.1 |
1341 |
Missense Mutation |
CCG,CTG |
P638L |
XP_011514527.1 |
| XM_011516226.1 |
1341 |
Missense Mutation |
CCG,CTG |
P550L |
XP_011514528.1 |
| XM_011516228.2 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
XP_011514530.1 |
| XM_011516229.2 |
1341 |
Missense Mutation |
CCG,CTG |
P472L |
XP_011514531.1 |
| XM_017012219.1 |
1341 |
Missense Mutation |
CCG,CTG |
P638L |
XP_016867708.1 |
| XM_017012220.1 |
1341 |
Missense Mutation |
CCG,CTG |
P550L |
XP_016867709.1 |
- Gene
- SRRT
- Gene Name
- serrate, RNA effector molecule
There are no transcripts associated with this gene.
- Gene
- UFSP1
- Gene Name
- UFM1 specific peptidase 1 (inactive)
There are no transcripts associated with this gene.
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