Product Details

SNP ID
rs189937915
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73792008 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTACTTCAACTGGGAAGAGGCCT[A/G]CCCACTTCCTGGTGTCACCTACAGC
Phenotype
MIM: 608842 MIM: 603268
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CHCHD1 PubMed Links

Gene Details

Gene
CHCHD1
Gene Name
coiled-coil-helix-coiled-coil-helix domain containing 1
There are no transcripts associated with this gene.

Gene
NDST2
Gene Name
N-deacetylase and N-sulfotransferase 2
There are no transcripts associated with this gene.

Gene
ZSWIM8
Gene Name
zinc finger SWIM-type containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242487.1 1771 Missense Mutation TAC,TGC Y490C NP_001229416.1
NM_001242488.1 1771 Missense Mutation TAC,TGC Y490C NP_001229417.1
NM_015037.3 1771 Missense Mutation TAC,TGC Y490C NP_055852.2
XM_005269648.2 1771 Missense Mutation TAC,TGC Y490C XP_005269705.1
XM_005269653.3 1771 Missense Mutation TAC,TGC Y490C XP_005269710.1
XM_005269655.3 1771 Missense Mutation TAC,TGC Y490C XP_005269712.1
XM_006717725.3 1771 Missense Mutation TAC,TGC Y490C XP_006717788.1
XM_011539544.1 1771 Missense Mutation TAC,TGC Y490C XP_011537846.1
XM_017015978.1 1771 Missense Mutation TAC,TGC Y490C XP_016871467.1
Gene
ZSWIM8-AS1
Gene Name
ZSWIM8 antisense RNA 1
There are no transcripts associated with this gene.

View Full Product Details