Product Details

SNP ID

rs141522232

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154448550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGACACAAGCTTCTTGCCTGATC[A/G]AGACCGTGAGGTAAAGGCTGCCTGG

Phenotype

MIM: 300453 MIM: 300104 MIM: 300022

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM50A PubMed Links

Gene Details

Gene

FAM50A

Gene Name

family with sequence similarity 50 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004699.3	619	Missense Mutation	CAA,CGA	Q170R	NP_004690.1

Gene

GDI1

Gene Name

GDP dissociation inhibitor 1

There are no transcripts associated with this gene.

Gene

MIR6858

Gene Name

microRNA 6858

There are no transcripts associated with this gene.

Gene

PLXNA3

Gene Name

plexin A3

There are no transcripts associated with this gene.

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