Product Details

SNP ID

rs200375314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:15031800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCATAGAAAGCAAACTGCCAGTG[C/T]TGTGCTGTACGCTCCAGTTGCGTGA

Phenotype

MIM: 615367 MIM: 614244

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NTAN1 PubMed Links

Gene Details

Gene

NTAN1

Gene Name

N-terminal asparagine amidase

There are no transcripts associated with this gene.

Gene

PDXDC1

Gene Name

pyridoxal dependent decarboxylase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001285444.1	1658	Silent Mutation	CTG,TTG	L462L	NP_001272373.1
NM_001285445.1	1658	Silent Mutation	CTG,TTG	L461L	NP_001272374.1
NM_001285447.1	1658	Silent Mutation	CTG,TTG	L474L	NP_001272376.1
NM_001285448.1	1658	Silent Mutation	CTG,TTG	L398L	NP_001272377.1
NM_001285449.1	1658	Intron			NP_001272378.1
NM_001285450.1	1658	Intron			NP_001272379.1
NM_001324019.1	1658	Silent Mutation	CTG,TTG	L488L	NP_001310948.1
NM_001324020.1	1658	Intron			NP_001310949.1
NM_001324021.1	1658	Intron			NP_001310950.1
NM_015027.3	1658	Silent Mutation	CTG,TTG	L489L	NP_055842.2
XM_005255173.1	1658	Silent Mutation	CTG,TTG	L507L	XP_005255230.1
XM_005255176.2	1658	Silent Mutation	CTG,TTG	L474L	XP_005255233.1
XM_006720865.2	1658	Silent Mutation	CTG,TTG	L447L	XP_006720928.2
XM_017023059.1	1658	Silent Mutation	CTG,TTG	L474L	XP_016878548.1
XM_017023060.1	1658	Silent Mutation	CTG,TTG	L498L	XP_016878549.1
XM_017023061.1	1658	Silent Mutation	CTG,TTG	L474L	XP_016878550.1
XM_017023062.1	1658	Silent Mutation	CTG,TTG	L474L	XP_016878551.1
XM_017023063.1	1658	Silent Mutation	CTG,TTG	L474L	XP_016878552.1
XM_017023064.1	1658	Silent Mutation	CTG,TTG	L447L	XP_016878553.1
XM_017023065.1	1658	Intron			XP_016878554.1

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