Product Details

SNP ID

rs139302994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137233013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCCCCACCAGCAGTGCTGACTG[C/T]CCGGGTGTCTGTGCCCATCATCATG

Phenotype

MIM: 609826 MIM: 602660

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYSRT1 PubMed Links

Gene Details

Gene

CYSRT1

Gene Name

cysteine rich tail 1

There are no transcripts associated with this gene.

Gene

RNF224

Gene Name

ring finger protein 224

There are no transcripts associated with this gene.

Gene

SLC34A3

Gene Name

solute carrier family 34 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177316.1	644	Missense Mutation	GCC,GTC	A153V	NP_001170787.1
NM_001177317.1	644	Missense Mutation	GCC,GTC	A153V	NP_001170788.1
NM_080877.2	644	Missense Mutation	GCC,GTC	A153V	NP_543153.1
XM_011518257.2	644	Missense Mutation	GCC,GTC	A153V	XP_011516559.1
XM_011518258.1	644	Missense Mutation	GCC,GTC	A153V	XP_011516560.1
XM_011518259.1	644	Missense Mutation	GCC,GTC	A153V	XP_011516561.1
XM_011518260.1	644	Missense Mutation	GCC,GTC	A153V	XP_011516562.1
XM_011518261.2	644	Missense Mutation	GCC,GTC	A153V	XP_011516563.1
XM_017014290.1	644	Missense Mutation	GCC,GTC	A153V	XP_016869779.1
XM_017014291.1	644	Missense Mutation	GCC,GTC	A153V	XP_016869780.1
XM_017014292.1	644	Missense Mutation	GCC,GTC	A153V	XP_016869781.1

Gene

TUBB4B

Gene Name

tubulin beta 4B class IVb

There are no transcripts associated with this gene.

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