Product Details

SNP ID: rs201480685
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:100107426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGAAGGATGGGAGGTGGGGCCTCC[C/T]TTGCCCTCCCCTGTTGGGGGAAGTG
Phenotype: MIM: 602296 MIM: 600592 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	2376	Intron			NP_004713.2
XM_005250689.4	2376	Intron			XP_005250746.1
XM_005250690.4	2376	Intron			XP_005250747.1
XM_006716175.3	2376	Intron			XP_006716238.1
XM_011516685.2	2376	Intron			XP_011514987.1
XM_017012790.1	2376	Intron			XP_016868279.1
XM_017012791.1	2376	Intron			XP_016868280.1

Gene: MCM7
Gene Name: minichromosome maintenance complex component 7

There are no transcripts associated with this gene.

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190415.1	2376	Silent Mutation	AAA,AAG	K655K	NP_001177344.1
NM_005641.3	2376	Silent Mutation	AAA,AAG	K618K	NP_005632.1
NM_139315.2	2376	Silent Mutation	AAA,AAG	K618K	NP_647476.1
XM_006716100.2	2376	Silent Mutation	AAA,AAG	K618K	XP_006716163.1
XM_006716101.2	2376	Silent Mutation	AAA,AAG	K608K	XP_006716164.1
XM_006716102.2	2376	Silent Mutation	AAA,AAG	K608K	XP_006716165.1
XM_011516542.2	2376	Silent Mutation	AAA,AAG	K608K	XP_011514844.1
XM_011516543.2	2376	Silent Mutation	AAA,AAG	K608K	XP_011514845.1
XM_017012568.1	2376	Silent Mutation	AAA,AAG	K608K	XP_016868057.1

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