Product Details

SNP ID
rs1059407
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:109309710 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATTTGAGTTTTATTTCCATTTTG[G/T]GGAATTTTATCATGGGGTCTGGCTT
Phenotype
MIM: 602458
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MYBPHL PubMed Links

Gene Details

Gene
MYBPHL
Gene Name
myosin binding protein H like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010985.2 6996 Intron NP_001010985.2
NM_001265613.1 6996 Intron NP_001252542.1
XM_017001173.1 6996 Intron XP_016856662.1
XM_017001174.1 6996 Intron XP_016856663.1
XM_017001175.1 6996 Intron XP_016856664.1
Gene
SORT1
Gene Name
sortilin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001205228.1 6996 UTR 3 NP_001192157.1
NM_002959.6 6996 UTR 3 NP_002950.3
XM_005271100.2 6996 UTR 3 XP_005271157.1
XM_005271101.2 6996 UTR 3 XP_005271158.1
XM_005271102.1 6996 UTR 3 XP_005271159.1
XM_006710812.1 6996 UTR 3 XP_006710875.1

View Full Product Details