Product Details

SNP ID

rs6760963

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:237489625 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCCACCTCCCCTTTATCAGCAAGAA[C/T]AACACCACACGACACACCTTGGCTC

Phenotype

MIM: 606526

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MLPH PubMed Links

Additional Information

For this assay, SNP(s) [rs144267132] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MLPH

Gene Name

melanophilin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042467.2		Intron			NP_001035932.1
NM_001281473.1		Intron			NP_001268402.1
NM_001281474.1		Intron			NP_001268403.1
NM_024101.6		Intron			NP_077006.1
XM_006712737.1		Intron			XP_006712800.1
XM_006712739.1		Intron			XP_006712802.1
XM_006712740.1		Intron			XP_006712803.1
XM_011511812.1		Intron			XP_011510114.1
XM_017004893.1		Intron			XP_016860382.1
XM_017004894.1		Intron			XP_016860383.1

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