Product Details

SNP ID

rs145815181

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37849418 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCAGGCGCGGGCCGCTCATTTCGC[C/T]CTTTCCGGCGGTGCTCGCAAGCGAG

Phenotype

MIM: 613383 MIM: 613556

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKRD54 PubMed Links

Gene Details

Gene

ANKRD54

Gene Name

ankyrin repeat domain 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138797.2	47	Intron			NP_620152.1
XM_006724136.1	47	Intron			XP_006724199.1
XM_006724137.1	47	Intron			XP_006724200.1
XM_011529877.2	47	Intron			XP_011528179.1
XM_011529878.2	47	Intron			XP_011528180.1
XM_011529879.2	47	Intron			XP_011528181.1
XM_011529880.2	47	Intron			XP_011528182.1
XM_011529882.2	47	Intron			XP_011528184.1
XM_011529883.2	47	Intron			XP_011528185.1
XM_011529884.2	47	Intron			XP_011528186.1
XM_017028590.1	47	Intron			XP_016884079.1
XM_017028591.1	47	Intron			XP_016884080.1
XM_017028593.1	47	Intron			XP_016884082.1

Gene

EIF3L

Gene Name

eukaryotic translation initiation factor 3 subunit L

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242923.1	47	UTR 5			NP_001229852.1
NM_016091.3	47	UTR 5			NP_057175.1
XM_005261625.1	47	Intron			XP_005261682.1
XM_006724260.3	47	Missense Mutation	CCC,CTC	P33L	XP_006724323.1
XM_017028814.1	47	Intron			XP_016884303.1

Gene

MIR658

Gene Name

microRNA 658

There are no transcripts associated with this gene.

Gene

MIR659

Gene Name

microRNA 659

There are no transcripts associated with this gene.

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