Product Details

SNP ID

rs139119751

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4797483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACTGACAAGCTGACACCTATTCA[C/T]GACCGCATTTTCTGCTGTCGCTCAG

Phenotype

MIM: 602384 MIM: 600307

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GLTPD2 PubMed Links

Gene Details

Gene

GLTPD2

Gene Name

glycolipid transfer protein domain containing 2

There are no transcripts associated with this gene.

Gene

LOC107984973

Gene Name

atherin-like

There are no transcripts associated with this gene.

Gene

PLD2

Gene Name

phospholipase D2

There are no transcripts associated with this gene.

Gene

PSMB6

Gene Name

proteasome subunit beta 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270481.1	267	Silent Mutation	CAC,CAT	H72H	NP_001257410.1
NM_002798.2	267	Silent Mutation	CAC,CAT	H72H	NP_002789.1

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