Product Details

SNP ID
rs193232883
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:29672993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCTTGAGGGCTTCACTGGATGA[C/G]AGTTGGATCTGGCATCCTGACAGAG
Phenotype
MIM: 159465 MIM: 612192
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MOG PubMed Links

Gene Details

Gene
MOG
Gene Name
myelin oligodendrocyte glycoprotein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008228.2 1084 Intron NP_001008229.1
NM_001008229.2 1084 Intron NP_001008230.1
NM_001170418.1 1084 Intron NP_001163889.1
NM_002433.4 1084 Intron NP_002424.3
NM_206809.3 1084 Intron NP_996532.2
NM_206810.3 1084 Intron NP_996533.2
NM_206811.3 1084 Intron NP_996534.2
NM_206812.3 1084 Intron NP_996535.2
NM_206814.5 1084 Intron NP_996537.3
XM_005249131.3 1084 Intron XP_005249188.1
Gene
ZFP57
Gene Name
ZFP57 zinc finger protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001109809.2 1084 Missense Mutation TCT,TGT S373C NP_001103279.2
XM_006715087.3 1084 Missense Mutation TCT,TGT S301C XP_006715150.1
XM_011514570.2 1084 Missense Mutation TCT,TGT S373C XP_011512872.1

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