Product Details

SNP ID

rs150054974

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23061840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATCACTGTGGCGAACATCAGGGC[A/C]CCGGCAGCGTTAGACTTCACATGCT

Phenotype

MIM: 139160 MIM: 605663

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GNAZ PubMed Links

Gene Details

Gene

GNAZ

Gene Name

G protein subunit alpha z

There are no transcripts associated with this gene.

Gene

RSPH14

Gene Name

radial spoke head 14 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014433.2	1119	Silent Mutation	GGG,GGT	G253G	NP_055248.1
XM_011530149.2	1119	Silent Mutation	GGG,GGT	G253G	XP_011528451.1
XM_011530150.1	1119	Silent Mutation	GGG,GGT	G253G	XP_011528452.1
XM_011530151.2	1119	Silent Mutation	GGG,GGT	G253G	XP_011528453.1
XM_011530152.2	1119	Silent Mutation	GGG,GGT	G253G	XP_011528454.1
XM_011530154.2	1119	Silent Mutation	GGG,GGT	G185G	XP_011528456.1
XM_011530155.2	1119	Silent Mutation	GGG,GGT	G121G	XP_011528457.1
XM_017028774.1	1119	Silent Mutation	GGG,GGT	G253G	XP_016884263.1

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