Product Details

SNP ID

rs35828562

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:1443792 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGACAGCATTGAGCAGGTTGGCT[C/T]CCTTCAGGGTCTGGCTCTCATCAGC

Phenotype

MIM: 606610

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NSFL1C PubMed Links

Gene Details

Gene

NSFL1C

Gene Name

NSFL1 cofactor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206736.1	2495	Missense Mutation	GAA,GGA	E359G	NP_001193665.1
NM_016143.4	2495	Missense Mutation	GAA,GGA	E357G	NP_057227.2
NM_018839.4	2495	Missense Mutation	GAA,GGA	E326G	NP_061327.2
XM_006723592.2	2495	Missense Mutation	GAA,GGA	E248G	XP_006723655.1
XM_006723593.2	2495	Missense Mutation	GAA,GGA	E248G	XP_006723656.1
XM_006723594.2	2495	Missense Mutation	GAA,GGA	E246G	XP_006723657.1
XM_011529300.1	2495	Missense Mutation	GAA,GGA	E362G	XP_011527602.1
XM_011529301.1	2495	Missense Mutation	GAA,GGA	E360G	XP_011527603.1
XM_011529302.2	2495	Missense Mutation	GAA,GGA	E309G	XP_011527604.1
XM_011529304.1	2495	Missense Mutation	GAA,GGA	E306G	XP_011527606.1
XM_011529305.2	2495	Intron			XP_011527607.1
XM_017027956.1	2495	Missense Mutation	GAA,GGA	E307G	XP_016883445.1
XM_017027957.1	2495	Missense Mutation	GAA,GGA	E308G	XP_016883446.1
XM_017027958.1	2495	Missense Mutation	GAA,GGA	E272G	XP_016883447.1

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