Product Details

SNP ID

rs146266307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100889066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTCCCAGCAAGGCCTTGGACCTG[C/G]CATCTGCGTCCCCCCCAACCATGAC

Phenotype

MIM: 100740 MIM: 614469 MIM: 611481

Polymorphism

C/G, 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	653	Intron			NP_000656.1
NM_001282449.1	653	Intron			NP_001269378.1
NM_001302621.1	653	Intron			NP_001289550.1
NM_001302622.1	653	Intron			NP_001289551.1
NM_015831.2	653	Intron			NP_056646.1
XM_006715995.2	653	Intron			XP_006716058.1
XM_011516225.1	653	Intron			XP_011514527.1
XM_011516226.1	653	Intron			XP_011514528.1
XM_011516228.2	653	Intron			XP_011514530.1
XM_011516229.2	653	Intron			XP_011514531.1
XM_017012219.1	653	Intron			XP_016867708.1
XM_017012220.1	653	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	653	Intron			NP_001122324.1
NM_001128853.1	653	Intron			NP_001122325.1
NM_001128854.1	653	Intron			NP_001122326.1
NM_015908.5	653	Intron			NP_056992.4
XM_005250405.2	653	Intron			XP_005250462.1
XM_005250406.2	653	Intron			XP_005250463.1
XM_005250407.2	653	Intron			XP_005250464.1
XM_005250408.2	653	Intron			XP_005250465.1
XM_017012290.1	653	Intron			XP_016867779.1
XM_017012291.1	653	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	653	Missense Mutation	GCC,GGC	A69G	NP_001015072.2

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