Product Details

SNP ID

rs144561541

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37832687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCGGGTGCAGAGGTCATCCAGGC[A/G]TTCTCGCTGCTCATGTTGCCCTAGG

Phenotype

MIM: 613383 MIM: 603692

Polymorphism

A/G, 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	1348	Missense Mutation	CGC,TGC	R260C	NP_620152.1
XM_006724136.1	1348	Missense Mutation	CGC,TGC	R167C	XP_006724199.1
XM_006724137.1	1348	Missense Mutation	CGC,TGC	R154C	XP_006724200.1
XM_011529877.2	1348	Missense Mutation	CGC,TGC	R304C	XP_011528179.1
XM_011529878.2	1348	Missense Mutation	CGC,TGC	R239C	XP_011528180.1
XM_011529879.2	1348	Missense Mutation	CGC,TGC	R162C	XP_011528181.1
XM_011529880.2	1348	Missense Mutation	CGC,TGC	R154C	XP_011528182.1
XM_011529882.2	1348	Missense Mutation	CGC,TGC	R140C	XP_011528184.1
XM_011529883.2	1348	Missense Mutation	CGC,TGC	R127C	XP_011528185.1
XM_011529884.2	1348	Missense Mutation	CGC,TGC	R127C	XP_011528186.1
XM_017028590.1	1348	Missense Mutation	CGC,TGC	R195C	XP_016884079.1
XM_017028591.1	1348	Missense Mutation	CGC,TGC	R140C	XP_016884080.1
XM_017028593.1	1348	Missense Mutation	CGC,TGC	R140C	XP_016884082.1

Gene

GALR3

Gene Name

galanin receptor 3

There are no transcripts associated with this gene.

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