Product Details

SNP ID

rs751747

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:227732517 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGCGCAACCAAGGAGGCCAGCACCT[C/T]TGTGATGCGCCCAACATCAAAGGCT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

JMJD4 PubMed Links

Gene Details

Gene

JMJD4

Gene Name

jumonji domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161465.1	367	Missense Mutation	AAG,GAG	K407E	NP_001154937.1
NM_023007.2	367	Missense Mutation	AAG,GAG	K423E	NP_075383.2
XM_011544262.2	367	Missense Mutation	AAG,GAG	K374E	XP_011542564.1

Gene

SNAP47

Gene Name

synaptosome associated protein 47

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323930.1	367	Intron			NP_001310859.1
NM_001323931.1	367	Intron			NP_001310860.1
NM_001323932.1	367	Intron			NP_001310861.1
NM_001323933.1	367	Intron			NP_001310862.1
NM_001323934.1	367	Intron			NP_001310863.1
NM_001323935.1	367	Intron			NP_001310864.1
NM_053052.3	367	Intron			NP_444280.2
XM_006711734.3	367	Intron			XP_006711797.1
XM_017000231.1	367	UTR 5			XP_016855720.1
XM_017000232.1	367	UTR 5			XP_016855721.1

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