Product Details

SNP ID

rs200404626

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:13107020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGTCCGTTTAAGGATGGCAACA[A/G]CTTCTTCATGGGTGACTCCTTCTAG

Phenotype

MIM: 603785

Polymorphism

A/G, 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	6293	Missense Mutation	GCT,GTT	A2020V	NP_001248335.1
NM_001261407.1	6293	Missense Mutation	GCT,GTT	A1991V	NP_001248336.1
NM_003829.4	6293	Missense Mutation	GCT,GTT	A2024V	NP_003820.2
XM_005251622.4	6293	Missense Mutation	GCT,GTT	A2053V	XP_005251679.1
XM_005251623.4	6293	Missense Mutation	GCT,GTT	A1983V	XP_005251680.1
XM_006716885.3	6293	Missense Mutation	GCT,GTT	A2053V	XP_006716948.1
XM_006716886.3	6293	Missense Mutation	GCT,GTT	A2053V	XP_006716949.1
XM_006716887.3	6293	Missense Mutation	GCT,GTT	A2053V	XP_006716950.1
XM_006716888.3	6293	Missense Mutation	GCT,GTT	A2024V	XP_006716951.1
XM_006716889.3	6293	Missense Mutation	GCT,GTT	A2020V	XP_006716952.1
XM_006716891.3	6293	Missense Mutation	GCT,GTT	A1991V	XP_006716954.1
XM_017015252.1	6293	Missense Mutation	GCT,GTT	A2025V	XP_016870741.1
XM_017015253.1	6293	Missense Mutation	GCT,GTT	A1991V	XP_016870742.1
XM_017015254.1	6293	Missense Mutation	GCT,GTT	A1983V	XP_016870743.1
XM_017015255.1	6293	Missense Mutation	GCT,GTT	A1983V	XP_016870744.1
XM_017015256.1	6293	Missense Mutation	GCT,GTT	A1954V	XP_016870745.1
XM_017015257.1	6293	Missense Mutation	GCT,GTT	A1954V	XP_016870746.1
XM_017015258.1	6293	Intron			XP_016870747.1
XM_017015259.1	6293	Intron			XP_016870748.1

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