Product Details

SNP ID

rs200189816

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:71648904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGGGGCAGTCATAGTGCTGTGT[C/G]GAACTCCTCCGGGGGCTCGGTCCGA

Phenotype

MIM: 614094 MIM: 611066

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MARVELD3 PubMed Links

Gene Details

Gene

MARVELD3

Gene Name

MARVEL domain containing 3

There are no transcripts associated with this gene.

Gene

PHLPP2

Gene Name

PH domain and leucine rich repeat protein phosphatase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289003.1	4337	Missense Mutation	CAC,GAC	H1253D	NP_001275932.1
NM_015020.3	4337	Missense Mutation	CAC,GAC	H1320D	NP_055835.2

View Full Product Details