Product Details

SNP ID

rs146436811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11575024 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCATGGGAGTTCAGGGCCTGGCTC[A/G]CCTCGGCAGCCTGGTCTTAAAGAGG

Phenotype

MIM: 171640 MIM: 612248

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACP5 PubMed Links

Gene Details

Gene

ACP5

Gene Name

acid phosphatase 5, tartrate resistant

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001111034.2	1367	Nonsense Mutation	CGA,TGA	R322*	NP_001104504.1
NM_001111035.2	1367	Nonsense Mutation	CGA,TGA	R322*	NP_001104505.1
NM_001111036.2	1367	Nonsense Mutation	CGA,TGA	R322*	NP_001104506.1
NM_001322023.1	1367	Nonsense Mutation	CGA,TGA	R322*	NP_001308952.1
NM_001611.4	1367	Nonsense Mutation	CGA,TGA	R322*	NP_001602.1
XM_005259938.1	1367	Nonsense Mutation	CGA,TGA	R322*	XP_005259995.1
XM_011528069.2	1367	Nonsense Mutation	CGA,TGA	R322*	XP_011526371.1

Gene

ZNF627

Gene Name

zinc finger protein 627

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290083.1	1367	Intron			NP_001277012.1
NM_001290084.1	1367	Intron			NP_001277013.1
NM_001290085.1	1367	Intron			NP_001277014.1
NM_145295.3	1367	Intron			NP_660338.1
XM_011527780.2	1367	Intron			XP_011526082.1

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