Product Details

SNP ID

rs115334480

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4789538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGCAGGAGTCGGGAACCCTGGAG[A/G]CCCCGGAGAGGAAACAGCCTCCGTG

Phenotype

MIM: 600307 MIM: 604657

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GLTPD2 PubMed Links

Gene Details

Gene

GLTPD2

Gene Name

glycolipid transfer protein domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014985.2	403	Missense Mutation	ACC,GCC	T67A	NP_001014985.2
XM_005256626.3	403	Missense Mutation	ACC,GCC	T103A	XP_005256683.1

Gene

PSMB6

Gene Name

proteasome subunit beta 6

There are no transcripts associated with this gene.

Gene

TM4SF5

Gene Name

transmembrane 4 L six family member 5

There are no transcripts associated with this gene.

Gene

VMO1

Gene Name

vitelline membrane outer layer 1 homolog

There are no transcripts associated with this gene.

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