Product Details

SNP ID

rs141973736

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39670012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGTGAAACGGGTCCTGCCCATC[A/G]ACGTGCACCAGCCCCAGCCCCTGGG

Phenotype

MIM: 611801 MIM: 171190 MIM: 607048 MIM: 604488

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PGAP3 PubMed Links

Gene Details

Gene

PGAP3

Gene Name

post-GPI attachment to proteins 3

There are no transcripts associated with this gene.

Gene

PNMT

Gene Name

phenylethanolamine N-methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002686.4	603	Missense Mutation	AAC,GAC	N158D	NP_002677.1
XM_011524909.2	603	Missense Mutation	AAC,GAC	N60D	XP_011523211.1

Gene

STARD3

Gene Name

StAR related lipid transfer domain containing 3

There are no transcripts associated with this gene.

Gene

TCAP

Gene Name

titin-cap

There are no transcripts associated with this gene.

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