Product Details

SNP ID

rs201488830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100889056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCTACGCAGACTCCCAGCAAGGC[C/T]TTGGACCTGGCATCTGCGTCCCCCC

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	663	Intron			NP_000656.1
NM_001282449.1	663	Intron			NP_001269378.1
NM_001302621.1	663	Intron			NP_001289550.1
NM_001302622.1	663	Intron			NP_001289551.1
NM_015831.2	663	Intron			NP_056646.1
XM_006715995.2	663	Intron			XP_006716058.1
XM_011516225.1	663	Intron			XP_011514527.1
XM_011516226.1	663	Intron			XP_011514528.1
XM_011516228.2	663	Intron			XP_011514530.1
XM_011516229.2	663	Intron			XP_011514531.1
XM_017012219.1	663	Intron			XP_016867708.1
XM_017012220.1	663	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	663	Intron			NP_001122324.1
NM_001128853.1	663	Intron			NP_001122325.1
NM_001128854.1	663	Intron			NP_001122326.1
NM_015908.5	663	Intron			NP_056992.4
XM_005250405.2	663	Intron			XP_005250462.1
XM_005250406.2	663	Intron			XP_005250463.1
XM_005250407.2	663	Intron			XP_005250464.1
XM_005250408.2	663	Intron			XP_005250465.1
XM_017012290.1	663	Intron			XP_016867779.1
XM_017012291.1	663	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	663	Silent Mutation	AAA,AAG	K72K	NP_001015072.2

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