Product Details

SNP ID
rs148567595
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:2527853 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCACCTCCGCTCCTTCGAGGCC[A/G]ATGCCTTCCAGGACTTGCTGGCCAC
Phenotype
MIM: 108745 MIM: 611113
Polymorphism
A/G, Transition 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_001145815.1 593 Missense Mutation AAT,GAT N166D NP_001139287.1
NM_015944.3 593 Missense Mutation AAT,GAT N166D NP_057028.2
XM_017023262.1 593 Missense Mutation AAT,GAT N166D XP_016878751.1
XM_017023263.1 593 Missense Mutation AAT,GAT N166D XP_016878752.1
XM_017023264.1 593 Missense Mutation AAT,GAT N166D XP_016878753.1
XM_017023265.1 593 Missense Mutation AAT,GAT N166D XP_016878754.1
XM_017023266.1 593 Intron XP_016878755.1
XM_017023267.1 593 UTR 5 XP_016878756.1
Gene
ATP6V0C
Gene Name
ATPase H+ transporting V0 subunit c
There are no transcripts associated with this gene.

Gene
CEMP1
Gene Name
cementum protein 1
There are no transcripts associated with this gene.

Gene
MIR3178
Gene Name
microRNA 3178
There are no transcripts associated with this gene.

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