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SNP ID: rs17883268
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:100890549 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGAGGCGGGGCCGGAGAAGGACAGC[A/G]GGAAGGAGAGAGGAGGAGAAAAGAA
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	2358	Intron			NP_000656.1
NM_001282449.1	2358	Intron			NP_001269378.1
NM_001302621.1	2358	Intron			NP_001289550.1
NM_001302622.1	2358	Intron			NP_001289551.1
NM_015831.2	2358	UTR 3			NP_056646.1
XM_006715995.2	2358	UTR 3			XP_006716058.1
XM_011516225.1	2358	UTR 3			XP_011514527.1
XM_011516226.1	2358	UTR 3			XP_011514528.1
XM_011516228.2	2358	UTR 3			XP_011514530.1
XM_011516229.2	2358	UTR 3			XP_011514531.1
XM_017012219.1	2358	Intron			XP_016867708.1
XM_017012220.1	2358	Intron			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)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015072.3	2358	Intron			NP_001015072.2

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