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SNP ID

rs200655054

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:88156064 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCTGAAAAAGTTGATTTTCGTC[A/G]CCTAGGAGAAGAATTCTGTCATTGG

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	756	Missense Mutation	CAC,CGC	H140R	NP_776185.2
XM_005264745.4	756	Missense Mutation	CAC,CGC	H139R	XP_005264802.1

Gene

CGGBP1

Gene Name

CGG triplet repeat binding protein 1

There are no transcripts associated with this gene.

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