Product Details

SNP ID

rs144036152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7220040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGGCAGCTGCTGAGGCTCGGGG[A/G]CGGAAGGTCTGTGTGTGACAAGAGG

Phenotype

MIM: 609575 MIM: 602887 MIM: 602151

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACADVL PubMed Links

Gene Details

Gene

ACADVL

Gene Name

acyl-CoA dehydrogenase, very long chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000018.3	11	Missense Mutation	GAC,GGC	D19G	NP_000009.1
NM_001033859.2	11	Missense Mutation	GAC,GGC	D19G	NP_001029031.1
NM_001270447.1	11	Intron			NP_001257376.1
NM_001270448.1	11	UTR 5			NP_001257377.1
XM_006721516.2	11	Missense Mutation	GAC,GGC	D19G	XP_006721579.2
XM_011523829.1	11	Missense Mutation	GAC,GGC	D19G	XP_011522131.1
XM_011523830.1	11	Missense Mutation	GAC,GGC	D19G	XP_011522132.1

Gene

DLG4

Gene Name

discs large MAGUK scaffold protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128827.2	11	Intron			NP_001122299.1
NM_001321074.1	11	UTR 5			NP_001308003.1
NM_001321075.1	11	Intron			NP_001308004.1
NM_001321076.1	11	Intron			NP_001308005.1
NM_001321077.1	11	Intron			NP_001308006.1
NM_001365.4	11	UTR 5			NP_001356.1
XM_005256491.1	11	Intron			XP_005256548.1
XM_011523698.1	11	Intron			XP_011522000.1
XM_011523699.2	11	Intron			XP_011522001.1
XM_011523702.1	11	Intron			XP_011522004.1
XM_017024288.1	11	Intron			XP_016879777.1
XM_017024289.1	11	Intron			XP_016879778.1
XM_017024290.1	11	Intron			XP_016879779.1

Gene

DVL2

Gene Name

dishevelled segment polarity protein 2

There are no transcripts associated with this gene.

Gene

MIR324

Gene Name

microRNA 324

There are no transcripts associated with this gene.

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