Product Details

SNP ID

rs193280665

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:13107002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCAAAGTGACAGTGCCTTTTGTC[C/T]GTTTAAGGATGGCAACAGCTTCTTC

Phenotype

MIM: 603785

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MPDZ PubMed Links

Gene Details

Gene

MPDZ

Gene Name

multiple PDZ domain crumbs cell polarity complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261406.1	6311	Missense Mutation	CAG,CGG	Q2026R	NP_001248335.1
NM_001261407.1	6311	Missense Mutation	CAG,CGG	Q1997R	NP_001248336.1
NM_003829.4	6311	Missense Mutation	CAG,CGG	Q2030R	NP_003820.2
XM_005251622.4	6311	Missense Mutation	CAG,CGG	Q2059R	XP_005251679.1
XM_005251623.4	6311	Missense Mutation	CAG,CGG	Q1989R	XP_005251680.1
XM_006716885.3	6311	Missense Mutation	CAG,CGG	Q2059R	XP_006716948.1
XM_006716886.3	6311	Missense Mutation	CAG,CGG	Q2059R	XP_006716949.1
XM_006716887.3	6311	Missense Mutation	CAG,CGG	Q2059R	XP_006716950.1
XM_006716888.3	6311	Missense Mutation	CAG,CGG	Q2030R	XP_006716951.1
XM_006716889.3	6311	Missense Mutation	CAG,CGG	Q2026R	XP_006716952.1
XM_006716891.3	6311	Missense Mutation	CAG,CGG	Q1997R	XP_006716954.1
XM_017015252.1	6311	Missense Mutation	CAG,CGG	Q2031R	XP_016870741.1
XM_017015253.1	6311	Missense Mutation	CAG,CGG	Q1997R	XP_016870742.1
XM_017015254.1	6311	Missense Mutation	CAG,CGG	Q1989R	XP_016870743.1
XM_017015255.1	6311	Missense Mutation	CAG,CGG	Q1989R	XP_016870744.1
XM_017015256.1	6311	Missense Mutation	CAG,CGG	Q1960R	XP_016870745.1
XM_017015257.1	6311	Missense Mutation	CAG,CGG	Q1960R	XP_016870746.1
XM_017015258.1	6311	Intron			XP_016870747.1
XM_017015259.1	6311	Intron			XP_016870748.1

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