Product Details

SNP ID
rs149943854
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:202941943 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTCATTAAGAGTCAACCATAATG[A/G]CGGTGAAGAGTCAAAAACCAGTGCT
Phenotype
MIM: 607586
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CARF PubMed Links

Gene Details

Gene
CARF
Gene Name
calcium responsive transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001104586.2 364 Missense Mutation GAC,GGC D14G NP_001098056.1
NM_001282910.1 364 Missense Mutation GAC,GGC D14G NP_001269839.1
NM_001282911.1 364 Missense Mutation GAC,GGC D14G NP_001269840.1
NM_001282912.1 364 Intron NP_001269841.1
NM_001322427.1 364 Missense Mutation GAC,GGC D14G NP_001309356.1
NM_001322428.1 364 Missense Mutation GAC,GGC D14G NP_001309357.1
NM_001322429.1 364 Intron NP_001309358.1
NM_001322430.1 364 UTR 5 NP_001309359.1
NM_024744.15 364 Missense Mutation GAC,GGC D14G NP_079020.13
XM_005246858.3 364 Missense Mutation GAC,GGC D14G XP_005246915.1
XM_005246859.3 364 Missense Mutation GAC,GGC D14G XP_005246916.1
XM_005246864.3 364 Intron XP_005246921.1
XM_006712760.2 364 Missense Mutation GAC,GGC D14G XP_006712823.1
XM_011511867.2 364 Missense Mutation GAC,GGC D14G XP_011510169.1
XM_011511868.2 364 Missense Mutation GAC,GGC D14G XP_011510170.1
XM_011511869.2 364 Intron XP_011510171.1
XM_017004961.1 364 Missense Mutation GAC,GGC D14G XP_016860450.1
XM_017004962.1 364 Intron XP_016860451.1
XM_017004963.1 364 Intron XP_016860452.1
XM_017004964.1 364 Intron XP_016860453.1
XM_017004965.1 364 Intron XP_016860454.1
XM_017004966.1 364 Intron XP_016860455.1

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