Product Details

SNP ID

rs7946

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:17506246 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACTCACTCTTCGTATAGGAGAGCCA[T/C]TATGTAGGTGAGGGCCACCAGCACC

Phenotype

MIM: 602391 MIM: 605550

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

PEMT PubMed Links

Gene Details

Gene

PEMT

Gene Name

phosphatidylethanolamine N-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267551.1	498	Missense Mutation	ATG,GTG	M190V	NP_001254480.1
NM_001267552.1	498	Missense Mutation	AAT,AGT	N222S	NP_001254481.1
NM_007169.2	498	Missense Mutation	ATG,GTG	M175V	NP_009100.2
NM_148172.2	498	Missense Mutation	ATG,GTG	M212V	NP_680477.1
NM_148173.1	498	Missense Mutation	ATG,GTG	M175V	NP_680478.1
XM_006721418.3	498	Missense Mutation	ATG,GTG	M191V	XP_006721481.2
XM_017024016.1	498	Missense Mutation	ATG,GTG	M101V	XP_016879505.1

Gene

RASD1

Gene Name

ras related dexamethasone induced 1

There are no transcripts associated with this gene.

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