Product Details

SNP ID

rs144252979

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:210339736 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCACATGAGTGACCTCAGGAGGG[A/T]CATGAACAGAACTGTCCAGACTGCC

Phenotype

MIM: 605743

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

HHAT PubMed Links

Gene Details

Gene

HHAT

Gene Name

hedgehog acyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122834.3		Intron			NP_001116306.1
NM_001170564.2		Intron			NP_001164035.1
NM_001170580.2		Intron			NP_001164051.1
NM_001170587.2		Intron			NP_001164058.1
NM_001170588.2		Intron			NP_001164059.1
NM_018194.5		Intron			NP_060664.2
XM_006711441.3		Intron			XP_006711504.1
XM_011509737.2		Intron			XP_011508039.1
XM_011509738.2		Intron			XP_011508040.1
XM_011509739.2		Intron			XP_011508041.1
XM_011509740.2		Intron			XP_011508042.1
XM_011509741.2		Intron			XP_011508043.1
XM_011509742.2		Intron			XP_011508044.1
XM_011509744.2		Intron			XP_011508046.1
XM_011509746.2		Intron			XP_011508048.1
XM_011509747.1		Intron			XP_011508049.1
XM_017001726.1		Intron			XP_016857215.1
XM_017001727.1		Intron			XP_016857216.1
XM_017001728.1		Intron			XP_016857217.1
XM_017001729.1		Intron			XP_016857218.1
XM_017001730.1		Intron			XP_016857219.1
XM_017001731.1		Intron			XP_016857220.1
XM_017001732.1		Intron			XP_016857221.1
XM_017001733.1		Intron			XP_016857222.1
XM_017001734.1		Intron			XP_016857223.1
XM_017001735.1		Intron			XP_016857224.1
XM_017001736.1		Intron			XP_016857225.1
XM_017001737.1		Intron			XP_016857226.1
XM_017001738.1		Intron			XP_016857227.1
XM_017001739.1		Intron			XP_016857228.1
XM_017001740.1		Intron			XP_016857229.1
XM_017001741.1		Intron			XP_016857230.1
XM_017001742.1		Intron			XP_016857231.1
XM_017001743.1		Intron			XP_016857232.1
XM_017001744.1		Intron			XP_016857233.1

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