Product Details

SNP ID

rs200547902

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39160705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCATGGAGTCCTTCACGTCCTGC[C/T]TATTGGCAAATATCAGGACTGAAGC

Phenotype

MIM: 606826

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ARL5C PubMed Links

Gene Details

Gene

ARL5C

Gene Name

ADP ribosylation factor like GTPase 5C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143968.1	778	Missense Mutation	AAG,AGG	K126R	NP_001137440.1

Gene

PLXDC1

Gene Name

plexin domain containing 1

There are no transcripts associated with this gene.

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