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SNP ID: rs186877652
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:1221990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTTCACGTAGGCAGGGACACGAGTG[A/T]AGACTCCCGGCCTGTTGGGGCGGCC
Phenotype: MIM: 607904 MIM: 191081 MIM: 609341
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: CACNA1H PubMed Links

Gene Details

Gene: CACNA1H
Gene Name: calcium voltage-gated channel subunit alpha1 H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005407.1	1505	Intron			NP_001005407.1
NM_021098.2	1505	Intron			NP_066921.2
XM_005255652.4	1505	Intron			XP_005255709.1
XM_006720963.3	1505	Intron			XP_006721026.1
XM_006720964.3	1505	Intron			XP_006721027.1
XM_006720965.3	1505	Intron			XP_006721028.1
XM_006720967.3	1505	Intron			XP_006721030.1
XM_006720968.3	1505	Intron			XP_006721031.1
XM_011522724.2	1505	Intron			XP_011521026.1
XM_011522727.2	1505	Intron			XP_011521029.1
XM_017023819.1	1505	Intron			XP_016879308.1
XM_017023820.1	1505	Intron			XP_016879309.1
XM_017023821.1	1505	Intron			XP_016879310.1

Gene: TPSB2
Gene Name: tryptase beta 2 (gene/pseudogene)

There are no transcripts associated with this gene.

Gene: TPSG1
Gene Name: tryptase gamma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012467.3	1505	Missense Mutation	TAC,TTC	Y255F	NP_036599.3
XM_011522446.2	1505	Missense Mutation	TAC,TTC	Y280F	XP_011520748.1
XM_011522447.2	1505	Missense Mutation	TAC,TTC	Y280F	XP_011520749.1

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