Product Details

SNP ID

rs148991713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100892515 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGCACGGTGTTCAAAGACGTAGG[C/T]GTAGACCCGGGCACCCTGGGCAGCC

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	1298	Missense Mutation	ACC,GCC	T458A	NP_000656.1
NM_001282449.1	1298	Missense Mutation	ACC,GCC	T370A	NP_001269378.1
NM_001302621.1	1298	Missense Mutation	ACC,GCC	T458A	NP_001289550.1
NM_001302622.1	1298	Missense Mutation	ACC,GCC	T458A	NP_001289551.1
NM_015831.2	1298	Missense Mutation	ACC,GCC	T458A	NP_056646.1
XM_006715995.2	1298	Missense Mutation	ACC,GCC	T458A	XP_006716058.1
XM_011516225.1	1298	Missense Mutation	ACC,GCC	T624A	XP_011514527.1
XM_011516226.1	1298	Missense Mutation	ACC,GCC	T536A	XP_011514528.1
XM_011516228.2	1298	Missense Mutation	ACC,GCC	T458A	XP_011514530.1
XM_011516229.2	1298	Missense Mutation	ACC,GCC	T458A	XP_011514531.1
XM_017012219.1	1298	Missense Mutation	ACC,GCC	T624A	XP_016867708.1
XM_017012220.1	1298	Missense Mutation	ACC,GCC	T536A	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)

There are no transcripts associated with this gene.

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