Product Details

SNP ID

rs140627050

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:13107063 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCTAGACTCTGCCCATTGACAG[C/T]AATGATCTGATCGCCCCTTTTCAGA

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	6250	Missense Mutation	ACT,GCT	T2006A	NP_001248335.1
NM_001261407.1	6250	Missense Mutation	ACT,GCT	T1977A	NP_001248336.1
NM_003829.4	6250	Missense Mutation	ACT,GCT	T2010A	NP_003820.2
XM_005251622.4	6250	Missense Mutation	ACT,GCT	T2039A	XP_005251679.1
XM_005251623.4	6250	Missense Mutation	ACT,GCT	T1969A	XP_005251680.1
XM_006716885.3	6250	Missense Mutation	ACT,GCT	T2039A	XP_006716948.1
XM_006716886.3	6250	Missense Mutation	ACT,GCT	T2039A	XP_006716949.1
XM_006716887.3	6250	Missense Mutation	ACT,GCT	T2039A	XP_006716950.1
XM_006716888.3	6250	Missense Mutation	ACT,GCT	T2010A	XP_006716951.1
XM_006716889.3	6250	Missense Mutation	ACT,GCT	T2006A	XP_006716952.1
XM_006716891.3	6250	Missense Mutation	ACT,GCT	T1977A	XP_006716954.1
XM_017015252.1	6250	Missense Mutation	ACT,GCT	T2011A	XP_016870741.1
XM_017015253.1	6250	Missense Mutation	ACT,GCT	T1977A	XP_016870742.1
XM_017015254.1	6250	Missense Mutation	ACT,GCT	T1969A	XP_016870743.1
XM_017015255.1	6250	Missense Mutation	ACT,GCT	T1969A	XP_016870744.1
XM_017015256.1	6250	Missense Mutation	ACT,GCT	T1940A	XP_016870745.1
XM_017015257.1	6250	Missense Mutation	ACT,GCT	T1940A	XP_016870746.1
XM_017015258.1	6250	Intron			XP_016870747.1
XM_017015259.1	6250	Intron			XP_016870748.1

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