Product Details

SNP ID

rs201148229

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:26448339 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCCAGGCTACCTAATGCAAATG[C/T]CCCCGCCGTACCACCAGCTGTGCTG

Phenotype

MIM: 602157

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NOVA1 PubMed Links

Gene Details

Gene

NOVA1

Gene Name

NOVA alternative splicing regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002515.2	1518	Missense Mutation	ACA,GCA	T382A	NP_002506.2
NM_006489.2	1518	Missense Mutation	ACA,GCA	T358A	NP_006480.2
NM_006491.2	1518	Intron			NP_006482.1
XM_011536800.2	1518	Missense Mutation	ACA,GCA	T236A	XP_011535102.1
XM_017021342.1	1518	Missense Mutation	ACA,GCA	T345A	XP_016876831.1
XM_017021343.1	1518	Missense Mutation	ACA,GCA	T321A	XP_016876832.1
XM_017021344.1	1518	Missense Mutation	ACA,GCA	T260A	XP_016876833.1
XM_017021345.1	1518	Missense Mutation	ACA,GCA	T260A	XP_016876834.1
XM_017021346.1	1518	Missense Mutation	ACA,GCA	T260A	XP_016876835.1
XM_017021347.1	1518	Missense Mutation	ACA,GCA	T260A	XP_016876836.1
XM_017021348.1	1518	Missense Mutation	ACA,GCA	T260A	XP_016876837.1
XM_017021349.1	1518	Missense Mutation	ACA,GCA	T236A	XP_016876838.1

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