Product Details

SNP ID

rs145488775

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48974201 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCAGCCTGCAGGTCTTTAGCTGG[C/T]TTCTCCTGGCTCTAGGTCTGGGTCA

Phenotype

MIM: 300408 MIM: 300281

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GRIPAP1 PubMed Links

Gene Details

Gene

GRIPAP1

Gene Name

GRIP1 associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020137.4	2600	Missense Mutation	ACC,GCC	T840A	NP_064522.3
XM_011543935.1	2600	Missense Mutation	ACC,GCC	T850A	XP_011542237.1
XM_011543936.1	2600	Missense Mutation	ACC,GCC	T824A	XP_011542238.1
XM_011543937.1	2600	Missense Mutation	ACC,GCC	T774A	XP_011542239.1
XM_017029656.1	2600	Missense Mutation	ACC,GCC	T814A	XP_016885145.1
XM_017029657.1	2600	Missense Mutation	ACC,GCC	T774A	XP_016885146.1
XM_017029658.1	2600	Missense Mutation	ACC,GCC	T764A	XP_016885147.1
XM_017029659.1	2600	Missense Mutation	ACC,GCC	T764A	XP_016885148.1
XM_017029660.1	2600	Missense Mutation	ACC,GCC	T738A	XP_016885149.1
XM_017029661.1	2600	Missense Mutation	ACC,GCC	T738A	XP_016885150.1

Gene

KCND1

Gene Name

potassium voltage-gated channel subfamily D member 1

There are no transcripts associated with this gene.

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