Product Details

SNP ID

rs13241786

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100889035 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGACATAGGCTTCCGTGCCTGACCC[G/T]ACGCAGACTCCCAGCAAGGCCTTGG

Phenotype

MIM: 100740 MIM: 614469 MIM: 611481

Polymorphism

G/T, Transversion 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	684	Intron			NP_000656.1
NM_001282449.1	684	Intron			NP_001269378.1
NM_001302621.1	684	Intron			NP_001289550.1
NM_001302622.1	684	Intron			NP_001289551.1
NM_015831.2	684	Intron			NP_056646.1
XM_006715995.2	684	Intron			XP_006716058.1
XM_011516225.1	684	Intron			XP_011514527.1
XM_011516226.1	684	Intron			XP_011514528.1
XM_011516228.2	684	Intron			XP_011514530.1
XM_011516229.2	684	Intron			XP_011514531.1
XM_017012219.1	684	Intron			XP_016867708.1
XM_017012220.1	684	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	684	Intron			NP_001122324.1
NM_001128853.1	684	Intron			NP_001122325.1
NM_001128854.1	684	Intron			NP_001122326.1
NM_015908.5	684	Intron			NP_056992.4
XM_005250405.2	684	Intron			XP_005250462.1
XM_005250406.2	684	Intron			XP_005250463.1
XM_005250407.2	684	Intron			XP_005250464.1
XM_005250408.2	684	Intron			XP_005250465.1
XM_017012290.1	684	Intron			XP_016867779.1
XM_017012291.1	684	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	684	Silent Mutation	GTA,GTC	V79V	NP_001015072.2

View Full Product Details