Product Details

SNP ID
rs148365573
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27664362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTGCGACGTGTGCCTGGAGCAC[C/G]CTTCGGTGTCTCGGTACCACGCAGT
Phenotype
MIM: 602655 MIM: 612762
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SLC4A1AP PubMed Links

Gene Details

Gene
SLC4A1AP
Gene Name
solute carrier family 4 member 1 adaptor protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018158.2 892 Missense Mutation CCT,GCT P204A NP_060628.2
Gene
SUPT7L
Gene Name
SPT7-like STAGA complex gamma subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282729.1 892 Intron NP_001269658.1
NM_001282730.1 892 Intron NP_001269659.1
NM_001282731.1 892 Intron NP_001269660.1
NM_001282732.1 892 Intron NP_001269661.1
NM_014860.2 892 Intron NP_055675.1
XM_005264672.4 892 Intron XP_005264729.1

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