Product Details

SNP ID

rs147497038

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2514108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCCTCCCCACCCGCAGACATGT[C/T]CGAGTCCAAGAGCGGCCCCGAGTAT

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

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	239	Missense Mutation	TCC,TTC	S2F	NP_001185498.1
NM_001694.3	239	Missense Mutation	TCC,TTC	S2F	NP_001685.1

Gene

TBC1D24

Gene Name

TBC1 domain family member 24

There are no transcripts associated with this gene.

View Full Product Details