Product Details

SNP ID

rs201982360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:28826865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTCACCTCTGCCCCCACAGACA[A/G]GTTCACCGATTCAGCCATTGCCATG

Phenotype

MIM: 607931

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATXN2L PubMed Links

Gene Details

Gene

ATXN2L

Gene Name

ataxin 2 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308230.1	832	Missense Mutation	AAG,AGG	K207R	NP_001295159.1
NM_007245.3	832	Missense Mutation	AAG,AGG	K207R	NP_009176.2
NM_017492.3	832	Missense Mutation	AAG,AGG	K207R	NP_059867.3
NM_145714.2	832	Missense Mutation	AAG,AGG	K207R	NP_663760.1
NM_148414.2	832	Missense Mutation	AAG,AGG	K207R	NP_680780.1
NM_148415.2	832	Missense Mutation	AAG,AGG	K207R	NP_680781.1
NM_148416.2	832	Missense Mutation	AAG,AGG	K207R	NP_680782.1
XM_005255061.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255118.1
XM_005255062.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255119.1
XM_005255063.3	832	Missense Mutation	AAG,AGG	K207R	XP_005255120.1
XM_005255064.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255121.1
XM_005255065.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255122.1
XM_005255066.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255123.1
XM_005255067.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255124.1
XM_005255068.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255125.1
XM_005255069.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255126.1
XM_005255070.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255127.1
XM_005255071.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255128.1
XM_005255074.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255131.1
XM_005255075.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255132.1
XM_005255076.1	832	Missense Mutation	AAG,AGG	K207R	XP_005255133.1
XM_005255077.1	832	Missense Mutation	AAG,AGG	K147R	XP_005255134.1
XM_006721007.1	832	Missense Mutation	AAG,AGG	K207R	XP_006721070.1
XM_006721008.1	832	Missense Mutation	AAG,AGG	K207R	XP_006721071.1
XM_006721009.1	832	Missense Mutation	AAG,AGG	K207R	XP_006721072.1
XM_006721010.2	832	Missense Mutation	AAG,AGG	K207R	XP_006721073.1
XM_006721011.1	832	Missense Mutation	AAG,AGG	K207R	XP_006721074.1
XM_006721012.3	832	Intron			XP_006721075.1
XM_011545719.2	832	Missense Mutation	AAG,AGG	K207R	XP_011544021.1
XM_011545721.2	832	Missense Mutation	AAG,AGG	K207R	XP_011544023.1
XM_011545722.1	832	Intron			XP_011544024.1
XM_017022891.1	832	Missense Mutation	AAG,AGG	K147R	XP_016878380.1
XM_017022892.1	832	Intron			XP_016878381.1

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