Product Details

SNP ID

rs2733920

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100889526 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGTGGGCGGGAGCGGAGGTCCCA[G/T]GCCAGGCACAGCGTCCTCCTAGCGG

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	193	Intron			NP_000656.1
NM_001282449.1	193	Intron			NP_001269378.1
NM_001302621.1	193	Intron			NP_001289550.1
NM_001302622.1	193	Intron			NP_001289551.1
NM_015831.2	193	Intron			NP_056646.1
XM_006715995.2	193	Intron			XP_006716058.1
XM_011516225.1	193	Intron			XP_011514527.1
XM_011516226.1	193	Intron			XP_011514528.1
XM_011516228.2	193	Intron			XP_011514530.1
XM_011516229.2	193	Intron			XP_011514531.1
XM_017012219.1	193	Intron			XP_016867708.1
XM_017012220.1	193	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	193	Intron			NP_001122324.1
NM_001128853.1	193	Intron			NP_001122325.1
NM_001128854.1	193	Intron			NP_001122326.1
NM_015908.5	193	Intron			NP_056992.4
XM_005250405.2	193	Intron			XP_005250462.1
XM_005250406.2	193	Intron			XP_005250463.1
XM_005250407.2	193	Intron			XP_005250464.1
XM_005250408.2	193	Intron			XP_005250465.1
XM_017012290.1	193	Intron			XP_016867779.1
XM_017012291.1	193	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	193	UTR 5			NP_001015072.2

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