Product Details

SNP ID

rs12403249

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:204221913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGGCACTGCACTGGGCACTAAC[A/C]TAAGGCTCCACCGGGGGAAACCAAT

Phenotype

MIM: 607771

Polymorphism

A/C, Transversion 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	4594	UTR 3			NP_055750.2
XM_005244966.4	4594	UTR 3			XP_005245023.2
XM_005244967.4	4594	UTR 3			XP_005245024.2
XM_005244968.4	4594	UTR 3			XP_005245025.2
XM_006711212.3	4594	UTR 3			XP_006711275.1
XM_006711213.3	4594	UTR 3			XP_006711276.2
XM_006711214.3	4594	UTR 3			XP_006711277.2
XM_006711215.3	4594	UTR 3			XP_006711278.2
XM_006711217.3	4594	UTR 3			XP_006711280.2
XM_006711219.3	4594	UTR 3			XP_006711282.2
XM_006711221.2	4594	UTR 3			XP_006711284.1
XM_006711222.3	4594	UTR 3			XP_006711285.1
XM_011509295.2	4594	UTR 3			XP_011507597.1
XM_011509296.2	4594	UTR 3			XP_011507598.1
XM_011509297.2	4594	UTR 3			XP_011507599.1
XM_011509298.2	4594	UTR 3			XP_011507600.1
XM_011509299.2	4594	UTR 3			XP_011507601.2
XM_011509301.2	4594	UTR 3			XP_011507603.1
XM_011509304.2	4594	UTR 3			XP_011507606.1
XM_017000687.1	4594	UTR 3			XP_016856176.1
XM_017000688.1	4594	UTR 3			XP_016856177.1
XM_017000689.1	4594	UTR 3			XP_016856178.1
XM_017000690.1	4594	UTR 3			XP_016856179.1
XM_017000691.1	4594	UTR 3			XP_016856180.1
XM_017000692.1	4594	UTR 3			XP_016856181.1

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