Product Details

SNP ID

rs140506773

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:43877824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACAGGCTCAGTACACCCAGCTGA[C/G]AGGCACCCACTGGGGCTCTGTCCGT

Phenotype

MIM: 600723

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MPP2 PubMed Links

Gene Details

Gene

MPP2

Gene Name

membrane palmitoylated protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278370.1	1890	Missense Mutation	CTC,GTC	L593V	NP_001265299.1
NM_001278371.1	1890	Missense Mutation	CTC,GTC	L537V	NP_001265300.1
NM_001278372.1	1890	Missense Mutation	CTC,GTC	L572V	NP_001265301.1
NM_001278373.1	1890	Missense Mutation	CTC,GTC	L537V	NP_001265302.1
NM_001278374.1	1890	Missense Mutation	CTC,GTC	L409V	NP_001265303.1
NM_001278375.1	1890	Missense Mutation	CTC,GTC	L537V	NP_001265304.1
NM_001278376.2	1890	Missense Mutation	CTC,GTC	L565V	NP_001265305.2
NM_001278381.1	1890	Missense Mutation	CTC,GTC	L548V	NP_001265310.1
NM_005374.4	1890	Missense Mutation	CTC,GTC	L548V	NP_005365.4
XM_011524827.2	1890	Missense Mutation	CTC,GTC	L626V	XP_011523129.2

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