Product Details

SNP ID

rs11546340

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2514139 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGAGCGGCCCCGAGTATGCTTC[G/T]TTTTTCGCCGTCATGGGCGCCTCGG

Phenotype

MIM: 108745 MIM: 613577

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

AMDHD2 PubMed Links

Gene Details

Gene

AMDHD2

Gene Name

amidohydrolase domain containing 2

There are no transcripts associated with this gene.

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	270	Silent Mutation	TCG,TCT	S12S	NP_001185498.1
NM_001694.3	270	Silent Mutation	TCG,TCT	S12S	NP_001685.1

Gene

TBC1D24

Gene Name

TBC1 domain family member 24

There are no transcripts associated with this gene.

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