Product Details

SNP ID

rs146963052

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37832666 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTGGTACTGGTCATCTGCAGGC[A/G]GGTGCAGAGGTCATCCAGGCGTTCT

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	1369	Missense Mutation	CGC,TGC	R267C	NP_620152.1
XM_006724136.1	1369	Missense Mutation	CGC,TGC	R174C	XP_006724199.1
XM_006724137.1	1369	Missense Mutation	CGC,TGC	R161C	XP_006724200.1
XM_011529877.2	1369	Missense Mutation	CGC,TGC	R311C	XP_011528179.1
XM_011529878.2	1369	Missense Mutation	CGC,TGC	R246C	XP_011528180.1
XM_011529879.2	1369	Missense Mutation	CGC,TGC	R169C	XP_011528181.1
XM_011529880.2	1369	Missense Mutation	CGC,TGC	R161C	XP_011528182.1
XM_011529882.2	1369	Missense Mutation	CGC,TGC	R147C	XP_011528184.1
XM_011529883.2	1369	Missense Mutation	CGC,TGC	R134C	XP_011528185.1
XM_011529884.2	1369	Missense Mutation	CGC,TGC	R134C	XP_011528186.1
XM_017028590.1	1369	Missense Mutation	CGC,TGC	R202C	XP_016884079.1
XM_017028591.1	1369	Missense Mutation	CGC,TGC	R147C	XP_016884080.1
XM_017028593.1	1369	Missense Mutation	CGC,TGC	R147C	XP_016884082.1

Gene

GALR3

Gene Name

galanin receptor 3

There are no transcripts associated with this gene.

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