Product Details

SNP ID
rs140981157
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:13913486 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCCGCCGCCAGTGGCCATAGGAA[A/G]AGGCCCGGCGTCCACGCCTACCTAC
Phenotype
MIM: 610055
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C19orf57 PubMed Links

Gene Details

Gene
C19orf57
Gene Name
chromosome 19 open reading frame 57
There are no transcripts associated with this gene.

Gene
CC2D1A
Gene Name
coiled-coil and C2 domain containing 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017721.4 895 Missense Mutation AAA,AGA K199R NP_060191.3
XM_005259972.2 895 Missense Mutation AAA,AGA K199R XP_005260029.1
XM_005259973.2 895 Missense Mutation AAA,AGA K199R XP_005260030.1
XM_005259974.2 895 Missense Mutation AAA,AGA K199R XP_005260031.1
XM_005259975.2 895 Missense Mutation AAA,AGA K199R XP_005260032.1

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