Product Details

SNP ID
rs78468774
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:2752287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATGGTGGCGCCCGCGGCTCGGG[G/T]CTTCCTCCGGGCAGTGCGCGCGGCT
Phenotype
MIM: 610522 MIM: 606198
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
C5orf38 PubMed Links

Gene Details

Gene
C5orf38
Gene Name
chromosome 5 open reading frame 38
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001294337.1 157 Missense Mutation GGC,GTC G8V NP_001281266.1
NM_001306149.1 157 Missense Mutation GGC,GTC G8V NP_001293078.1
NM_001306150.1 157 Missense Mutation GGC,GTC G8V NP_001293079.1
NM_178569.3 157 Missense Mutation GGC,GTC G8V NP_848664.1
XM_005248256.3 157 Missense Mutation GGC,GTC G8V XP_005248313.1
XM_005248257.3 157 Missense Mutation GGC,GTC G8V XP_005248314.1
XM_011513975.2 157 Missense Mutation GGC,GTC G8V XP_011512277.1
XM_011513977.2 157 Missense Mutation GGC,GTC G8V XP_011512279.1
Gene
IRX2
Gene Name
iroquois homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134222.1 157 Intron NP_001127694.1
NM_033267.4 157 Intron NP_150366.1
XM_011513979.2 157 Intron XP_011512281.1

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