Product Details

SNP ID
rs199533705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:108451092 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAAACAGATGATGCTAATACAGA[A/G]AGCTAAATCAAGGTGTACAGGTATT
Phenotype
MIM: 612711
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GCC2 PubMed Links

Gene Details

Gene
GCC2
Gene Name
GRIP and coiled-coil domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181453.3 282 Missense Mutation AAA,AGA K43R NP_852118.1
XM_006712870.3 282 Missense Mutation AAA,AGA K46R XP_006712933.1
XM_006712871.1 282 Intron XP_006712934.1
XM_006712872.3 282 Missense Mutation AAA,AGA K46R XP_006712935.1
XM_011512213.2 282 UTR 5 XP_011510515.1

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