Product Details

SNP ID

rs149641563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100881410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCCACAGAAGCGCATGAGGAGAG[A/G]CTGGTGAGATGGAGCGGTTTCCCTC

Phenotype

MIM: 100740 MIM: 614469 MIM: 602933 MIM: 611481

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACHE PubMed Links

Gene Details

Gene

ACHE

Gene Name

acetylcholinesterase (Cartwright blood group)

There are no transcripts associated with this gene.

Gene

SRRT

Gene Name

serrate, RNA effector molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128852.1	516	Missense Mutation	GAC,GGC	D83G	NP_001122324.1
NM_001128853.1	516	Missense Mutation	GAC,GGC	D83G	NP_001122325.1
NM_001128854.1	516	Missense Mutation	GAC,GGC	D83G	NP_001122326.1
NM_015908.5	516	Missense Mutation	GAC,GGC	D83G	NP_056992.4
XM_005250405.2	516	Missense Mutation	GAC,GGC	D90G	XP_005250462.1
XM_005250406.2	516	Missense Mutation	GAC,GGC	D90G	XP_005250463.1
XM_005250407.2	516	Missense Mutation	GAC,GGC	D90G	XP_005250464.1
XM_005250408.2	516	Missense Mutation	GAC,GGC	D90G	XP_005250465.1
XM_017012290.1	516	Missense Mutation	GAC,GGC	D4G	XP_016867779.1
XM_017012291.1	516	Missense Mutation	GAC,GGC	D4G	XP_016867780.1

Gene

TRIP6

Gene Name

thyroid hormone receptor interactor 6

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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