Product Details

SNP ID

rs200124951

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:204223505 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGTATAGCTGCTGTCGGCGCCCC[A/G]TGGGGATTCAGACGACAGGGGGTTT

Phenotype

MIM: 607771

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GOLT1A PubMed Links

Gene Details

Gene

GOLT1A

Gene Name

golgi transport 1A

There are no transcripts associated with this gene.

Gene

PLEKHA6

Gene Name

pleckstrin homology domain containing A6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014935.4	3684	Missense Mutation	CGG,TGG	R1038W	NP_055750.2
XM_005244966.4	3684	Missense Mutation	CGG,TGG	R1163W	XP_005245023.2
XM_005244967.4	3684	Missense Mutation	CGG,TGG	R1059W	XP_005245024.2
XM_005244968.4	3684	Missense Mutation	CGG,TGG	R1038W	XP_005245025.2
XM_006711212.3	3684	Missense Mutation	CGG,TGG	R1291W	XP_006711275.1
XM_006711213.3	3684	Missense Mutation	CGG,TGG	R1165W	XP_006711276.2
XM_006711214.3	3684	Intron			XP_006711277.2
XM_006711215.3	3684	Missense Mutation	CGG,TGG	R1138W	XP_006711278.2
XM_006711217.3	3684	Missense Mutation	CGG,TGG	R1133W	XP_006711280.2
XM_006711219.3	3684	Missense Mutation	CGG,TGG	R1109W	XP_006711282.2
XM_006711221.2	3684	Missense Mutation	CGG,TGG	R1183W	XP_006711284.1
XM_006711222.3	3684	Missense Mutation	CGG,TGG	R1183W	XP_006711285.1
XM_011509295.2	3684	Missense Mutation	CGG,TGG	R1182W	XP_011507597.1
XM_011509296.2	3684	Missense Mutation	CGG,TGG	R1156W	XP_011507598.1
XM_011509297.2	3684	Missense Mutation	CGG,TGG	R1287W	XP_011507599.1
XM_011509298.2	3684	Missense Mutation	CGG,TGG	R1235W	XP_011507600.1
XM_011509299.2	3684	Missense Mutation	CGG,TGG	R1233W	XP_011507601.2
XM_011509301.2	3684	Missense Mutation	CGG,TGG	R1225W	XP_011507603.1
XM_011509304.2	3684	Missense Mutation	CGG,TGG	R1183W	XP_011507606.1
XM_017000687.1	3684	Intron			XP_016856176.1
XM_017000688.1	3684	Intron			XP_016856177.1
XM_017000689.1	3684	Missense Mutation	CGG,TGG	R1118W	XP_016856178.1
XM_017000690.1	3684	Missense Mutation	CGG,TGG	R1205W	XP_016856179.1
XM_017000691.1	3684	Missense Mutation	CGG,TGG	R1011W	XP_016856180.1
XM_017000692.1	3684	Missense Mutation	CGG,TGG	R1011W	XP_016856181.1

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