Product Details

SNP ID

rs185657098

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100107375 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGGGCACTGCCGCTGAGTGGGGA[C/T]GGGGACGATGCCGGGGGAGGAACTG

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	2427	Intron			NP_004713.2
XM_005250689.4	2427	Intron			XP_005250746.1
XM_005250690.4	2427	Intron			XP_005250747.1
XM_006716175.3	2427	Intron			XP_006716238.1
XM_011516685.2	2427	Intron			XP_011514987.1
XM_017012790.1	2427	Intron			XP_016868279.1
XM_017012791.1	2427	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	2427	Silent Mutation	CCA,CCG	P672P	NP_001177344.1
NM_005641.3	2427	Silent Mutation	CCA,CCG	P635P	NP_005632.1
NM_139315.2	2427	Silent Mutation	CCA,CCG	P635P	NP_647476.1
XM_006716100.2	2427	Silent Mutation	CCA,CCG	P635P	XP_006716163.1
XM_006716101.2	2427	Silent Mutation	CCA,CCG	P625P	XP_006716164.1
XM_006716102.2	2427	Silent Mutation	CCA,CCG	P625P	XP_006716165.1
XM_011516542.2	2427	Silent Mutation	CCA,CCG	P625P	XP_011514844.1
XM_011516543.2	2427	Silent Mutation	CCA,CCG	P625P	XP_011514845.1
XM_017012568.1	2427	Silent Mutation	CCA,CCG	P625P	XP_016868057.1

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