Product Details

SNP ID
rs142801971
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100889043 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCCGTGCCTGACCCTACGCAGA[C/T]TCCCAGCAAGGCCTTGGACCTGGCA
Phenotype
MIM: 100740 MIM: 614469 MIM: 611481
Polymorphism
C/T, 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_000665.4 676 Intron NP_000656.1
NM_001282449.1 676 Intron NP_001269378.1
NM_001302621.1 676 Intron NP_001289550.1
NM_001302622.1 676 Intron NP_001289551.1
NM_015831.2 676 Intron NP_056646.1
XM_006715995.2 676 Intron XP_006716058.1
XM_011516225.1 676 Intron XP_011514527.1
XM_011516226.1 676 Intron XP_011514528.1
XM_011516228.2 676 Intron XP_011514530.1
XM_011516229.2 676 Intron XP_011514531.1
XM_017012219.1 676 Intron XP_016867708.1
XM_017012220.1 676 Intron XP_016867709.1
Gene
SRRT
Gene Name
serrate, RNA effector molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128852.1 676 Intron NP_001122324.1
NM_001128853.1 676 Intron NP_001122325.1
NM_001128854.1 676 Intron NP_001122326.1
NM_015908.5 676 Intron NP_056992.4
XM_005250405.2 676 Intron XP_005250462.1
XM_005250406.2 676 Intron XP_005250463.1
XM_005250407.2 676 Intron XP_005250464.1
XM_005250408.2 676 Intron XP_005250465.1
XM_017012290.1 676 Intron XP_016867779.1
XM_017012291.1 676 Intron XP_016867780.1
Gene
UFSP1
Gene Name
UFM1 specific peptidase 1 (inactive)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001015072.3 676 Missense Mutation ATC,GTC I77V NP_001015072.2

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