Product Details

SNP ID

rs2232743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:85595768 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTCAGAAGGCTGGGCAGCCATGG[C/T]GTCCTATTTCGATGAACACGACTGC

Phenotype

MIM: 612490 MIM: 616757 MIM: 611594 MIM: 607029

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C2orf68 PubMed Links

Gene Details

Gene

C2orf68

Gene Name

chromosome 2 open reading frame 68

There are no transcripts associated with this gene.

Gene

RNF181

Gene Name

ring finger protein 181

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016494.3	55	Missense Mutation	GCG,GTG	A2V	NP_057578.1
XM_005264359.3	55	Missense Mutation	GCG,GTG	A2V	XP_005264416.1

Gene

TMEM150A

Gene Name

transmembrane protein 150A

There are no transcripts associated with this gene.

Gene

USP39

Gene Name

ubiquitin specific peptidase 39

There are no transcripts associated with this gene.

Gene

VAMP5

Gene Name

vesicle associated membrane protein 5

There are no transcripts associated with this gene.

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