Product Details

SNP ID
rs140942811
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26494142 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAATGGGAATCCTCACTTACCAA[C/T]GTTGGAGGACACCGCCCGGTTCATG
Phenotype
MIM: 602254 MIM: 612747
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SRRD PubMed Links

Gene Details

Gene
SRRD
Gene Name
SRR1 domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013694.2 3560 Intron NP_001013716.2
XM_011530178.2 3560 UTR 3 XP_011528480.1
XM_017028799.1 3560 Intron XP_016884288.1
Gene
TFIP11
Gene Name
tuftelin interacting protein 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008697.1 3560 Missense Mutation ATT,GTT I719V NP_001008697.1
NM_012143.2 3560 Missense Mutation ATT,GTT I719V NP_036275.1
XM_011530079.1 3560 Missense Mutation ATT,GTT I719V XP_011528381.1
XM_017028735.1 3560 Missense Mutation ATT,GTT I719V XP_016884224.1

View Full Product Details