Product Details

SNP ID

rs2015743

Assay Type

Functionally tested

NCBI dbSNP Submissions

48

Location

Chr.1:210343352 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGCCCCTTCCTTTAAAATAGTTAC[G/T]TTTAAGTTTTCATTTCTGCCTTCGT

Phenotype

MIM: 605743

Polymorphism

G/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	489	Intron			NP_001116306.1
NM_001170564.2	489	Intron			NP_001164035.1
NM_001170580.2	489	Intron			NP_001164051.1
NM_001170587.2	489	Intron			NP_001164058.1
NM_001170588.2	489	Intron			NP_001164059.1
NM_018194.5	489	Intron			NP_060664.2
XM_006711441.3	489	Intron			XP_006711504.1
XM_011509737.2	489	Intron			XP_011508039.1
XM_011509738.2	489	Intron			XP_011508040.1
XM_011509739.2	489	Intron			XP_011508041.1
XM_011509740.2	489	Intron			XP_011508042.1
XM_011509741.2	489	Intron			XP_011508043.1
XM_011509742.2	489	Intron			XP_011508044.1
XM_011509744.2	489	Intron			XP_011508046.1
XM_011509746.2	489	Intron			XP_011508048.1
XM_011509747.1	489	Intron			XP_011508049.1
XM_017001726.1	489	Intron			XP_016857215.1
XM_017001727.1	489	Intron			XP_016857216.1
XM_017001728.1	489	Intron			XP_016857217.1
XM_017001729.1	489	Intron			XP_016857218.1
XM_017001730.1	489	Intron			XP_016857219.1
XM_017001731.1	489	Intron			XP_016857220.1
XM_017001732.1	489	Intron			XP_016857221.1
XM_017001733.1	489	Intron			XP_016857222.1
XM_017001734.1	489	Intron			XP_016857223.1
XM_017001735.1	489	UTR 5			XP_016857224.1
XM_017001736.1	489	Intron			XP_016857225.1
XM_017001737.1	489	Intron			XP_016857226.1
XM_017001738.1	489	Intron			XP_016857227.1
XM_017001739.1	489	Intron			XP_016857228.1
XM_017001740.1	489	Intron			XP_016857229.1
XM_017001741.1	489	Intron			XP_016857230.1
XM_017001742.1	489	Intron			XP_016857231.1
XM_017001743.1	489	Intron			XP_016857232.1
XM_017001744.1	489	Intron			XP_016857233.1

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