Product Details

SNP ID

rs202047163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:85591840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAAGCTGGCCGAACTGCAGCAGC[A/G]TTCAGACCAACTCCTGGATATGGTG

Phenotype

MIM: 612490 MIM: 616757 MIM: 607029 MIM: 603177

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RNF181 PubMed Links

Gene Details

Gene

RNF181

Gene Name

ring finger protein 181

There are no transcripts associated with this gene.

Gene

TMEM150A

Gene Name

transmembrane protein 150A

There are no transcripts associated with this gene.

Gene

VAMP5

Gene Name

vesicle associated membrane protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006634.2	202	Missense Mutation	CAT,CGT	H40R	NP_006625.1

Gene

VAMP8

Gene Name

vesicle associated membrane protein 8

There are no transcripts associated with this gene.

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