Product Details

SNP ID: rs143405011
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:100102687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCTGTGTCTCAGCATCACCATGGC[C/T]GTCATTTCATTCACATCAGACACAG
Phenotype: MIM: 602296 MIM: 600592 MIM: 612983 MIM: 612150 MIM: 612984 MIM: 602955
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: AP4M1 PubMed Links

Gene Details

Gene: AP4M1
Gene Name: adaptor related protein complex 4 mu 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004722.3	346	Missense Mutation	CGT,TGT	R54C	NP_004713.2
XM_005250689.4	346	Missense Mutation	CGT,TGT	R61C	XP_005250746.1
XM_005250690.4	346	Intron			XP_005250747.1
XM_006716175.3	346	Missense Mutation	CGT,TGT	R61C	XP_006716238.1
XM_011516685.2	346	Missense Mutation	CGT,TGT	R61C	XP_011514987.1
XM_017012790.1	346	UTR 5			XP_016868279.1
XM_017012791.1	346	Intron			XP_016868280.1

Gene: MCM7
Gene Name: minichromosome maintenance complex component 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278595.1	346	Intron			NP_001265524.1
NM_005916.4	346	Intron			NP_005907.3
NM_182776.2	346	Intron			NP_877577.1
XM_005250348.3	346	Intron			XP_005250405.1
XM_017012217.1	346	Intron			XP_016867706.1

Gene: MIR106B
Gene Name: microRNA 106b

There are no transcripts associated with this gene.

Gene: MIR25
Gene Name: microRNA 25

There are no transcripts associated with this gene.

Gene: MIR93
Gene Name: microRNA 93

There are no transcripts associated with this gene.

Gene: TAF6
Gene Name: TATA-box binding protein associated factor 6

There are no transcripts associated with this gene.

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