Product Details

SNP ID

rs146979128

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:109487635 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCCAGCCAGGGGGCCTCACCAA[A/G]GACTCCCCTGGAAAACCTCCCATGG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATXN7L2 PubMed Links

Gene Details

Gene

ATXN7L2

Gene Name

ataxin 7 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153340.4	546	Silent Mutation	AAA,AAG	K177K	NP_699171.3
XM_005270445.3	546	Silent Mutation	AAA,AAG	K209K	XP_005270502.1
XM_005270446.2	546	Silent Mutation	AAA,AAG	K209K	XP_005270503.1
XM_011540638.2	546	Silent Mutation	AAA,AAG	K187K	XP_011538940.1
XM_011540639.2	546	Silent Mutation	AAA,AAG	K151K	XP_011538941.1
XM_011540641.2	546	Silent Mutation	AAA,AAG	K151K	XP_011538943.1
XM_011540644.2	546	Silent Mutation	AAA,AAG	K151K	XP_011538946.1
XM_011540645.1	546	Missense Mutation	AAG,AGG	K22R	XP_011538947.1
XM_011540646.2	546	Silent Mutation	AAA,AAG	K209K	XP_011538948.1
XM_017000267.1	546	Silent Mutation	AAA,AAG	K151K	XP_016855756.1
XM_017000268.1	546	Silent Mutation	AAA,AAG	K151K	XP_016855757.1
XM_017000269.1	546	Silent Mutation	AAA,AAG	K151K	XP_016855758.1
XM_017000270.1	546	Silent Mutation	AAA,AAG	K151K	XP_016855759.1

Gene

CYB561D1

Gene Name

cytochrome b561 family member D1

There are no transcripts associated with this gene.

Gene

SYPL2

Gene Name

synaptophysin like 2

There are no transcripts associated with this gene.

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