Product Details

SNP ID

rs145396449

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2519381 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTCCTCATCGCCAACTCCCTGAA[C/T]GACGACATCAGCCTCTACAAGTGAG

Phenotype

MIM: 108745 MIM: 613577

Polymorphism

C/T, 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	477	Intron			NP_001139287.1
NM_015944.3	477	Intron			NP_057028.2
XM_017023262.1	477	Intron			XP_016878751.1
XM_017023263.1	477	Intron			XP_016878752.1
XM_017023264.1	477	Intron			XP_016878753.1
XM_017023265.1	477	Intron			XP_016878754.1
XM_017023266.1	477	Intron			XP_016878755.1
XM_017023267.1	477	Intron			XP_016878756.1

Gene

ATP6V0C

Gene Name

ATPase H+ transporting V0 subunit c

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198569.1	477	Silent Mutation	AAC,AAT	N81N	NP_001185498.1
NM_001694.3	477	Silent Mutation	AAC,AAT	N81N	NP_001685.1

Gene

TBC1D24

Gene Name

TBC1 domain family member 24

There are no transcripts associated with this gene.

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