Product Details

SNP ID

rs72647817

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:109309595 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGGTCAGGTAACAAAGTCCAGTC[A/T]GTTTTATTTTTAACCCAAATATTCC

Phenotype

MIM: 602458

Polymorphism

A/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	7111	Intron			NP_001010985.2
NM_001265613.1	7111	Intron			NP_001252542.1
XM_017001173.1	7111	Intron			XP_016856662.1
XM_017001174.1	7111	Intron			XP_016856663.1
XM_017001175.1	7111	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	7111	UTR 3			NP_001192157.1
NM_002959.6	7111	UTR 3			NP_002950.3
XM_005271100.2	7111	UTR 3			XP_005271157.1
XM_005271101.2	7111	UTR 3			XP_005271158.1
XM_005271102.1	7111	UTR 3			XP_005271159.1
XM_006710812.1	7111	UTR 3			XP_006710875.1

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