Product Details

SNP ID

rs138036641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:88153340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACTTGGCAACACAGGGGATTGTT[A/G]TACCTCCAGCTACTGAAAAACACAA

Phenotype

MIM: 603363

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C3orf38 PubMed Links

Gene Details

Gene

C3orf38

Gene Name

chromosome 3 open reading frame 38

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173824.3	584	Missense Mutation	ATA,GTA	I82V	NP_776185.2
XM_005264745.4	584	Missense Mutation	ATA,GTA	I82V	XP_005264802.1

Gene

CGGBP1

Gene Name

CGG triplet repeat binding protein 1

There are no transcripts associated with this gene.

Gene

ZNF654

Gene Name

zinc finger protein 654

There are no transcripts associated with this gene.

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