Product Details

SNP ID
rs148653435
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237488116 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACACCGCGTCCCACTGACATTAACT[A/G]GCACTGGAAACTCCACCTCACTTCC
Phenotype
MIM: 606526
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MLPH PubMed Links

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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