Product Details

SNP ID

rs200347699

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100102904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGATTACTGTGGCTCCCTGGGC[A/G]AGGGGACCATCTCCCGCAATGTGGC

Phenotype

MIM: 602296 MIM: 600592 MIM: 612983 MIM: 612150 MIM: 612984 MIM: 602955

Polymorphism

A/G, 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	481	Missense Mutation	AAG,GAG	K99E	NP_004713.2
XM_005250689.4	481	Missense Mutation	AAG,GAG	K106E	XP_005250746.1
XM_005250690.4	481	Intron			XP_005250747.1
XM_006716175.3	481	Missense Mutation	AAG,GAG	K106E	XP_006716238.1
XM_011516685.2	481	Missense Mutation	AAG,GAG	K106E	XP_011514987.1
XM_017012790.1	481	UTR 5			XP_016868279.1
XM_017012791.1	481	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	481	Intron			NP_001265524.1
NM_005916.4	481	Intron			NP_005907.3
NM_182776.2	481	Intron			NP_877577.1
XM_005250348.3	481	Intron			XP_005250405.1
XM_017012217.1	481	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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