Product Details

SNP ID

rs147485965

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:150648337 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCGGCTTTAAGATTTATTGAAG[A/G]CTGCCAGCACAGCCCAGATCATTTC

Phenotype

MIM: 612208

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GOLPH3L PubMed Links

Gene Details

Gene

GOLPH3L

Gene Name

golgi phosphoprotein 3 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018178.5	986	Missense Mutation	GCC,GTC	A281V	NP_060648.2
XM_006711428.1	986	Missense Mutation	GCC,GTC	A295V	XP_006711491.1

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