Product Details

SNP ID

rs199964448

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127925919 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGTCCTTCAGCACCAGAACAAG[A/G]GGGCTGCCCTCAGGGGCGGGATCCA

Phenotype

MIM: 603564 MIM: 612865 MIM: 606378

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DPM2 PubMed Links

Gene Details

Gene

DPM2

Gene Name

dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit

There are no transcripts associated with this gene.

Gene

PIP5KL1

Gene Name

phosphatidylinositol-4-phosphate 5-kinase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135219.1	756	Silent Mutation	CCC,CCT	P237P	NP_001128691.1
NM_173492.1	756	Silent Mutation	CCC,CCT	P34P	NP_775763.1
XM_017014279.1	756	Intron			XP_016869768.1

Gene

ST6GALNAC4

Gene Name

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

There are no transcripts associated with this gene.

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