Product Details

SNP ID

rs28362527

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38705074 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAACTGATGACACTGGAAAAATAA[C/T]CCATAGGAAACTACCTTATGAGACC

Phenotype

MIM: 602245 MIM: 615323

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GTPBP1 PubMed Links

Gene Details

Gene

GTPBP1

Gene Name

GTP binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004286.4	497	Intron			NP_004277.2
XM_011530537.2	497	UTR 5			XP_011528839.1
XM_017029099.1	497	UTR 5			XP_016884588.1
XM_017029100.1	497	UTR 5			XP_016884589.1
XM_017029101.1	497	Intron			XP_016884590.1
XM_017029102.1	497	Intron			XP_016884591.1
XM_017029103.1	497	Intron			XP_016884592.1

Gene

JOSD1

Gene Name

Josephin domain containing 1

There are no transcripts associated with this gene.

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