Product Details

SNP ID

rs189095388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2530530 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCACGTCAGGGGTGATTGTCTTGA[C/G]TTTCTCTCCATTTGAGTTCTGGGGT

Phenotype

MIM: 611113 MIM: 605213

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AMDHD2 PubMed Links

Gene Details

Gene

AMDHD2

Gene Name

amidohydrolase domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145815.1	1653	Missense Mutation	ACT,AGT	T519S	NP_001139287.1
NM_015944.3	1653	Intron			NP_057028.2
XM_017023262.1	1653	UTR 3			XP_016878751.1
XM_017023263.1	1653	UTR 3			XP_016878752.1
XM_017023264.1	1653	UTR 3			XP_016878753.1
XM_017023265.1	1653	UTR 3			XP_016878754.1
XM_017023266.1	1653	UTR 3			XP_016878755.1
XM_017023267.1	1653	UTR 3			XP_016878756.1

Gene

CEMP1

Gene Name

cementum protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048212.3	1653	Missense Mutation	CTC,GTC	L182V	NP_001041677.1

Gene

MIR3178

Gene Name

microRNA 3178

There are no transcripts associated with this gene.

Gene

PDPK1

Gene Name

3-phosphoinositide dependent protein kinase 1

There are no transcripts associated with this gene.

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