Product Details

SNP ID

rs143803253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:115268898 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCTTACCTATGTGGGATATGTA[C/G]AAGTGGCCCAGAGCCTGTTGGTCCT

Phenotype

MIM: 602031

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCDC112 PubMed Links

Gene Details

Gene

CCDC112

Gene Name

coiled-coil domain containing 112

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040440.2	1795	Missense Mutation	CTA,GTA	L511V	NP_001035530.1
NM_152549.2	1795	Missense Mutation	CTA,GTA	L428V	NP_689762.2
XM_005271908.1	1795	Missense Mutation	CTA,GTA	L479V	XP_005271965.1

Gene

PGGT1B

Gene Name

protein geranylgeranyltransferase type I subunit beta

There are no transcripts associated with this gene.

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