Product Details
- SNP ID
-
rs143241109
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:100882125 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGAAGACCTTCAAGGAGTTTCTCCT[C/T]TCCCTGGATGACTCGGTGGATGAGA
- Phenotype
-
MIM: 100740
MIM: 614469
MIM: 602933
MIM: 611481
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ACHE
PubMed Links
Gene Details
- Gene
- ACHE
- Gene Name
- acetylcholinesterase (Cartwright blood group)
There are no transcripts associated with this gene.
- Gene
- SRRT
- Gene Name
- serrate, RNA effector molecule
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001128852.1 |
739 |
Silent Mutation |
CTC,CTT |
L157L |
NP_001122324.1 |
NM_001128853.1 |
739 |
Silent Mutation |
CTC,CTT |
L157L |
NP_001122325.1 |
NM_001128854.1 |
739 |
Silent Mutation |
CTC,CTT |
L157L |
NP_001122326.1 |
NM_015908.5 |
739 |
Silent Mutation |
CTC,CTT |
L157L |
NP_056992.4 |
XM_005250405.2 |
739 |
Silent Mutation |
CTC,CTT |
L164L |
XP_005250462.1 |
XM_005250406.2 |
739 |
Silent Mutation |
CTC,CTT |
L164L |
XP_005250463.1 |
XM_005250407.2 |
739 |
Silent Mutation |
CTC,CTT |
L164L |
XP_005250464.1 |
XM_005250408.2 |
739 |
Silent Mutation |
CTC,CTT |
L164L |
XP_005250465.1 |
XM_017012290.1 |
739 |
Silent Mutation |
CTC,CTT |
L78L |
XP_016867779.1 |
XM_017012291.1 |
739 |
Silent Mutation |
CTC,CTT |
L78L |
XP_016867780.1 |
- Gene
- TRIP6
- Gene Name
- thyroid hormone receptor interactor 6
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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