Product Details

SNP ID

rs11095627

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:13772214 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAATTGCTTCTGGAAAGCTTGTCA[A/G]TGAGTCCAGCATCCAGATTCTTTAA

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	3583	UTR 3			NP_001001994.1
NM_001001995.2	3583	UTR 3			NP_001001995.1
NM_001001996.2	3583	UTR 3			NP_001001996.1
NM_001318729.1	3583	UTR 3			NP_001305658.1
NM_005278.4	3583	UTR 3			NP_005269.1
XM_005274489.4	3583	UTR 3			XP_005274546.1
XM_011545497.2	3583	UTR 3			XP_011543799.1
XM_017029432.1	3583	UTR 3			XP_016884921.1
XM_017029433.1	3583	UTR 3			XP_016884922.1
XM_017029434.1	3583	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	3583	Intron			NP_003602.1

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