Product Details

SNP ID

rs201813053

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54174249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCATGCACATGTAGTCATAGGCG[C/T]GCATCTTCAGGAACCAGTGCACCCA

Phenotype

MIM: 606048

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MBOAT7 PubMed Links

Gene Details

Gene

MBOAT7

Gene Name

membrane bound O-acyltransferase domain containing 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146056.2	1556	Missense Mutation	CAC,CGC	H332R	NP_001139528.1
NM_001146082.2	1556	Intron			NP_001139554.1
NM_001146083.2	1556	Missense Mutation	CAC,CGC	H332R	NP_001139555.1
NM_024298.4	1556	Missense Mutation	CAC,CGC	H405R	NP_077274.3
XM_011527299.2	1556	Missense Mutation	CAC,CGC	H405R	XP_011525601.1
XM_011527300.2	1556	Missense Mutation	CAC,CGC	H405R	XP_011525602.1
XM_017027296.1	1556	Intron			XP_016882785.1

Gene

TMC4

Gene Name

transmembrane channel like 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145303.2	1556	Intron			NP_001138775.2
NM_144686.3	1556	Intron			NP_653287.2
XM_011526486.2	1556	Intron			XP_011524788.1

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