Product Details

SNP ID

rs199886441

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:85599300 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGTTGCAGCTGAGAACTCTCAT[C/G]GACAAAGAAGACTCCACCTAAAACG

Phenotype

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

Polymorphism

C/G, Transversion 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

There are no transcripts associated with this gene.

Gene

TMEM150A

Gene Name

transmembrane protein 150A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031738.2	1456	Missense Mutation	CAT,GAT	H198D	NP_001026908.1
XM_006711930.3	1456	Missense Mutation	CAT,GAT	H198D	XP_006711993.1
XM_006711931.3	1456	Missense Mutation	CAT,GAT	H198D	XP_006711994.1
XM_006711932.2	1456	Missense Mutation	CAT,GAT	H145D	XP_006711995.1
XM_011532505.2	1456	Missense Mutation	CAT,GAT	H174D	XP_011530807.1
XM_011532507.2	1456	Missense Mutation	CAT,GAT	H151D	XP_011530809.1
XM_011532508.2	1456	Missense Mutation	CAT,GAT	H145D	XP_011530810.1
XM_017003305.1	1456	Missense Mutation	CAT,GAT	H151D	XP_016858794.1
XM_017003306.1	1456	Missense Mutation	CAT,GAT	H151D	XP_016858795.1
XM_017003307.1	1456	Missense Mutation	CAT,GAT	H151D	XP_016858796.1

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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