Product Details

SNP ID
rs191861818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13774597 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTTAAACTTCAAAACCGCATAGT[A/T]ATATGTAGTAGCCATCATGTAGATC
Phenotype
MIM: 300051 MIM: 300170
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GPM6B PubMed Links

Gene Details

Gene
GPM6B
Gene Name
glycoprotein M6B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001994.2 1200 Missense Mutation AAC,TAC N230Y NP_001001994.1
NM_001001995.2 1200 Intron NP_001001995.1
NM_001001996.2 1200 Missense Mutation AAC,TAC N289Y NP_001001996.1
NM_001318729.1 1200 Intron NP_001305658.1
NM_005278.4 1200 Missense Mutation AAC,TAC N249Y NP_005269.1
XM_005274489.4 1200 Intron XP_005274546.1
XM_011545497.2 1200 Intron XP_011543799.1
XM_017029432.1 1200 Missense Mutation AAC,TAC N270Y XP_016884921.1
XM_017029433.1 1200 Intron XP_016884922.1
XM_017029434.1 1200 Missense Mutation AAC,TAC N163Y XP_016884923.1
Gene
OFD1
Gene Name
OFD1, centriole and centriolar satellite protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003611.2 1200 Intron NP_003602.1

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