Product Details

SNP ID

rs150257798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37832974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTACTCACCTGCTTCACCTCCAGA[C/T]GCACAGCCTCTAGGCACTGGGCATG

Phenotype

MIM: 613383 MIM: 603692

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	1274	Missense Mutation	CAT,CGT	H235R	NP_620152.1
XM_006724136.1	1274	Missense Mutation	CAT,CGT	H142R	XP_006724199.1
XM_006724137.1	1274	Missense Mutation	CAT,CGT	H129R	XP_006724200.1
XM_011529877.2	1274	Missense Mutation	CAT,CGT	H279R	XP_011528179.1
XM_011529878.2	1274	Missense Mutation	CAT,CGT	H214R	XP_011528180.1
XM_011529879.2	1274	Missense Mutation	CAT,CGT	H137R	XP_011528181.1
XM_011529880.2	1274	Missense Mutation	CAT,CGT	H129R	XP_011528182.1
XM_011529882.2	1274	Missense Mutation	CAT,CGT	H115R	XP_011528184.1
XM_011529883.2	1274	Missense Mutation	CAT,CGT	H102R	XP_011528185.1
XM_011529884.2	1274	Missense Mutation	CAT,CGT	H102R	XP_011528186.1
XM_017028590.1	1274	Missense Mutation	CAT,CGT	H170R	XP_016884079.1
XM_017028591.1	1274	Missense Mutation	CAT,CGT	H115R	XP_016884080.1
XM_017028593.1	1274	Missense Mutation	CAT,CGT	H115R	XP_016884082.1

Gene

GALR3

Gene Name

galanin receptor 3

There are no transcripts associated with this gene.

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