Product Details

SNP ID

rs199861985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154460409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGGGCCCGTCGAGGACAACGCT[C/T]GCTGCTACCCGCCCCCCAGCATGCG

Phenotype

MIM: 300453 MIM: 300022

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM50A PubMed Links

Gene Details

Gene

FAM50A

Gene Name

family with sequence similarity 50 member A

There are no transcripts associated with this gene.

Gene

PLXNA3

Gene Name

plexin A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017514.4	401	Missense Mutation	CGC,TGC	R76C	NP_059984.3
XM_005274705.4	401	Missense Mutation	CGC,TGC	R76C	XP_005274762.2
XM_005274706.4	401	Intron			XP_005274763.2
XM_006724829.3	401	Missense Mutation	CGC,TGC	R76C	XP_006724892.1
XM_011531183.2	401	Intron			XP_011529485.1

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