Product Details

SNP ID

rs17189743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:54255416 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGACCCAGAAGCCCGGGATATTGC[A/G]AATGATGTCATTCCTCTGCTCCAGG

Phenotype

MIM: 102595

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACYP2 PubMed Links

Gene Details

Gene

ACYP2

Gene Name

acylphosphatase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320586.1	857	Intron			NP_001307515.1
NM_001320587.1	857	Intron			NP_001307516.1
NM_001320588.1	857	Intron			NP_001307517.1
NM_001320589.1	857	Intron			NP_001307518.1
NM_001320590.1	857	Intron			NP_001307519.1
NM_138448.3	857	Intron			NP_612457.1
XM_017005406.1	857	Intron			XP_016860895.1
XM_017005407.1	857	Intron			XP_016860896.1
XM_017005408.1	857	Intron			XP_016860897.1
XM_017005409.1	857	Intron			XP_016860898.1
XM_017005410.1	857	Intron			XP_016860899.1
XM_017005411.1	857	Intron			XP_016860900.1
XM_017005412.1	857	Intron			XP_016860901.1
XM_017005413.1	857	Intron			XP_016860902.1

Gene

TSPYL6

Gene Name

TSPY like 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003937.2	857	Missense Mutation	CGC,TGC	R246C	NP_001003937.2

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