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SNP ID: rs28375628
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:3543573 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACCGCAGCCTACACCCAGCACCTGC[A/G]GGAGACCGCCTGGCATGACCCCATC
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	362	Missense Mutation	CAG,CGG	Q114R	NP_001129052.1
XM_011527596.2	362	Missense Mutation	CAG,CGG	Q61R	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	362	Intron			NP_001274458.1
NM_174983.4	362	Intron			NP_778148.2
XM_005259490.4	362	Intron			XP_005259547.1
XM_006722647.3	362	Intron			XP_006722710.1
XM_011527684.2	362	Intron			XP_011525986.1
XM_017026288.1	362	Intron			XP_016881777.1

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