Product Details

SNP ID
rs200631256
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:110123893 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTGACAGCAGAGCTTGGAGGGC[A/G]CCCTGGTTTTCTTGGTTTTGCTTAA
Phenotype
MIM: 602022 MIM: 607100
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MALL PubMed Links

Gene Details

Gene
MALL
Gene Name
mal, T-cell differentiation protein like
There are no transcripts associated with this gene.

Gene
NPHP1
Gene Name
nephrocystin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000272.3 2191 Silent Mutation GGC,GGT G700G NP_000263.2
NM_001128178.1 2191 Silent Mutation GGC,GGT G644G NP_001121650.1
NM_001128179.1 2191 Silent Mutation GGC,GGT G581G NP_001121651.1
NM_207181.2 2191 Silent Mutation GGC,GGT G699G NP_997064.2
XM_005263676.1 2191 Silent Mutation GGC,GGT G679G XP_005263733.1
XM_005263677.1 2191 Silent Mutation GGC,GGT G678G XP_005263734.1
XM_005263678.2 2191 UTR 3 XP_005263735.1
XM_005263679.1 2191 Silent Mutation GGC,GGT G643G XP_005263736.1
XM_006712551.1 2191 Silent Mutation GGC,GGT G735G XP_006712614.1
XM_006712552.2 2191 Intron XP_006712615.1
XM_011511244.1 2191 Intron XP_011509546.1
XM_017004218.1 2191 UTR 3 XP_016859707.1

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