Product Details

SNP ID

rs144529320

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7225985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGACTGGAGGGGCCCCCGGAGG[C/G]TGCACTGCTGGAGGGACTGGAGGTG

Phenotype

MIM: 609575 MIM: 602887 MIM: 602151 MIM: 612910

Polymorphism

C/G, Transversion 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	1719	Intron			NP_000009.1
NM_001033859.2	1719	Intron			NP_001029031.1
NM_001270447.1	1719	Intron			NP_001257376.1
NM_001270448.1	1719	Intron			NP_001257377.1
XM_006721516.2	1719	Intron			XP_006721579.2
XM_011523829.1	1719	Intron			XP_011522131.1
XM_011523830.1	1719	Intron			XP_011522132.1

Gene

DLG4

Gene Name

discs large MAGUK scaffold protein 4

There are no transcripts associated with this gene.

Gene

DVL2

Gene Name

dishevelled segment polarity protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004422.2	1719	Missense Mutation	CAC,CAG	H697Q	NP_004413.1
XM_005256502.1	1719	Missense Mutation	CAC,CAG	H693Q	XP_005256559.1
XM_017024298.1	1719	Missense Mutation	CAC,CAG	H437Q	XP_016879787.1

Gene

MIR324

Gene Name

microRNA 324

There are no transcripts associated with this gene.

Gene

PHF23

Gene Name

PHD finger protein 23

There are no transcripts associated with this gene.

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