Product Details

SNP ID
rs149367480
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154460397 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGCCCATGTCACGGGGCCCGTC[A/G]AGGACAACGCTCGCTGCTACCCGCC
Phenotype
MIM: 300453 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
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_017514.4 389 Missense Mutation AAG,GAG K72E NP_059984.3
XM_005274705.4 389 Missense Mutation AAG,GAG K72E XP_005274762.2
XM_005274706.4 389 Intron XP_005274763.2
XM_006724829.3 389 Missense Mutation AAG,GAG K72E XP_006724892.1
XM_011531183.2 389 Intron XP_011529485.1

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