Product Details

SNP ID

hCV12118088

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:112425344 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTATCTGTCTCATGTAGAATGGA[A/C]CTCTGAAGATCATCGACCGTAAAAA

Phenotype

MIM: 605677

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ACSL5 PubMed Links

Gene Details

Gene

ACSL5

Gene Name

acyl-CoA synthetase long-chain family member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016234.3	1741	Missense Mutation	ACT,CCT	T590P	NP_057318.2
NM_203379.1	1741	Missense Mutation	ACT,CCT	T534P	NP_976313.1
NM_203380.1	1741	Missense Mutation	ACT,CCT	T534P	NP_976314.1

Gene

ZDHHC6

Gene Name

zinc finger DHHC-type containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303134.1	1741	Intron			NP_001290063.1
NM_022494.2	1741	Intron			NP_071939.1

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