Product Details

SNP ID

rs148780664

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50798181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGTGTCTGTCCTTGAGAGCCAGG[C/T]CCAGGTCTCACGGTGGCGTATGGAC

Phenotype

MIM: 606362

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ACPT PubMed Links

Gene Details

Gene

ACPT

Gene Name

acid phosphatase, testicular

There are no transcripts associated with this gene.

Gene

C19orf48

Gene Name

chromosome 19 open reading frame 48

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290149.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277078.1
NM_001290150.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277079.1
NM_001290151.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277080.1
NM_001290152.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277081.1
NM_001290153.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277082.1
NM_001290154.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277083.1
NM_001290155.1	1154	Missense Mutation	ACC,GCC	T90A	NP_001277084.1
NM_032712.2	1154	Missense Mutation	ACC,GCC	T90A	NP_116101.1
NM_199249.2	1154	Missense Mutation	ACC,GCC	T90A	NP_954857.1
NM_199250.2	1154	Missense Mutation	ACC,GCC	T90A	NP_954858.1

Gene

SNORD88A

Gene Name

small nucleolar RNA, C/D box 88A

There are no transcripts associated with this gene.

Gene

SNORD88B

Gene Name

small nucleolar RNA, C/D box 88B

There are no transcripts associated with this gene.

Gene

SNORD88C

Gene Name

small nucleolar RNA, C/D box 88C

There are no transcripts associated with this gene.

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