Product Details

SNP ID

rs142125779

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:131525117 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCCAGGGTGGTCCCCTGGCTCAG[A/G]AAAGGTCCGCTTGTAGCTCCGCCCA

Phenotype

MIM: 607423 MIM: 609328

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POMT1 PubMed Links

Gene Details

Gene

POMT1

Gene Name

protein O-mannosyltransferase 1

There are no transcripts associated with this gene.

Gene

UCK1

Gene Name

uridine-cytidine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135954.2	822	UTR 3			NP_001129426.1
NM_001261450.2	822	Missense Mutation	CCT,TCT	P244S	NP_001248379.1
NM_001261451.2	822	Missense Mutation	CCT,TCT	P258S	NP_001248380.1
NM_001318519.1	822	Missense Mutation	CCT,TCT	P230S	NP_001305448.1
NM_031432.3	822	Missense Mutation	CCT,TCT	P253S	NP_113620.1
XM_005272224.2	822	Missense Mutation	CCT,TCT	P267S	XP_005272281.1

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