Product Details

SNP ID
rs72614512
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:13773301 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAGAAAAAGCAAAAATGAAATAC[A/G]AGAGGGTGCTTTTTTTTTTTTTTTT
Phenotype
MIM: 300051 MIM: 300170
Polymorphism
A/G, Transition 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 2496 UTR 3 NP_001001994.1
NM_001001995.2 2496 Intron NP_001001995.1
NM_001001996.2 2496 UTR 3 NP_001001996.1
NM_001318729.1 2496 Intron NP_001305658.1
NM_005278.4 2496 UTR 3 NP_005269.1
XM_005274489.4 2496 Intron XP_005274546.1
XM_011545497.2 2496 Intron XP_011543799.1
XM_017029432.1 2496 UTR 3 XP_016884921.1
XM_017029433.1 2496 Intron XP_016884922.1
XM_017029434.1 2496 UTR 3 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 2496 Intron NP_003602.1

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