Product Details

SNP ID

rs4820345

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:38695146 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTAAATCAGGCATGGGTCAAAGAGC[C/T]AGGCACACATTAGTAATCCGTAGGT

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

There are no transcripts associated with this gene.

Gene

JOSD1

Gene Name

Josephin domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014876.5		Intron			NP_055691.1
XM_005261876.2		Intron			XP_005261933.1
XM_005261877.2		Intron			XP_005261934.1
XM_005261878.2		Intron			XP_005261935.1
XM_005261879.2		Intron			XP_005261936.1

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