Product Details

SNP ID
rs190854539
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26494156 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACTTACCAACGTTGGAGGACACC[A/G]CCCGGTTCATGATATCAAGTGCCTC
Phenotype
MIM: 602254 MIM: 612747
Polymorphism
A/G, 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 3574 Intron NP_001013716.2
XM_011530178.2 3574 UTR 3 XP_011528480.1
XM_017028799.1 3574 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 3574 Missense Mutation NP_001008697.1
NM_012143.2 3574 Missense Mutation NP_036275.1
XM_011530079.1 3574 Missense Mutation XP_011528381.1
XM_017028735.1 3574 Missense Mutation XP_016884224.1

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