Product Details

SNP ID
rs183635903
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3543876 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGGAGCCACTGTGGAGGGCATCA[A/G]ACTACGTGCCCTCCCTGTCGGCACC
Phenotype
MIM: 603619
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
C19orf71 PubMed Links

Gene Details

Gene
C19orf71
Gene Name
chromosome 19 open reading frame 71
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135580.1 517 Missense Mutation AAC,GAC N166D NP_001129052.1
XM_011527596.2 517 Missense Mutation AAC,GAC N113D XP_011525898.1
Gene
FZR1
Gene Name
fizzy/cell division cycle 20 related 1
There are no transcripts associated with this gene.

Gene
MFSD12
Gene Name
major facilitator superfamily domain containing 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287529.1 517 Intron NP_001274458.1
NM_174983.4 517 Intron NP_778148.2
XM_005259490.4 517 Intron XP_005259547.1
XM_006722647.3 517 Intron XP_006722710.1
XM_011527684.2 517 Intron XP_011525986.1
XM_017026288.1 517 Intron XP_016881777.1

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