Product Details

SNP ID

rs141130330

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:117283356 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTTGGCTTATTTCATTATCAAGG[C/T]CTTCTTCTGTATCATCTGTGTACTT

Phenotype

MIM: 614235 MIM: 193001

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PDZD8 PubMed Links

Gene Details

Gene

PDZD8

Gene Name

PDZ domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173791.4	3467	Missense Mutation	GAC,GGC	D1126G	NP_776152.1
XM_005269518.3	3467	Missense Mutation	GAC,GGC	D1085G	XP_005269575.1
XM_011539265.1	3467	Intron			XP_011537567.1
XM_011539266.2	3467	Intron			XP_011537568.1

Gene

SLC18A2

Gene Name

solute carrier family 18 member A2

There are no transcripts associated with this gene.

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