Product Details

SNP ID
rs200113920
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:93045332 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGGCTGGCGGCTGCCAGCCTG[C/T]GGGCACCGGTGCCCTCAGCATTGGT
Phenotype
MIM: 607362
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RGMA PubMed Links

Gene Details

Gene
RGMA
Gene Name
repulsive guidance molecule family member a
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166283.1 1274 Missense Mutation CAC,CGC H348R NP_001159755.1
NM_001166286.1 1274 Missense Mutation CAC,CGC H324R NP_001159758.1
NM_001166287.1 1274 Missense Mutation CAC,CGC H324R NP_001159759.1
NM_001166288.1 1274 Missense Mutation CAC,CGC H324R NP_001159760.1
NM_001166289.1 1274 Missense Mutation CAC,CGC H324R NP_001159761.1
NM_020211.2 1274 Missense Mutation CAC,CGC H340R NP_064596.2

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