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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